Respiratory cystic fibrosis. Diagnostics and analyzes

Cystic fibrosis is a inherited genetic disease characterized by a lesion of the external secretion glands of most vital internal organs.

This inherited genetic disease got its name from the addition of two words of Latin origin - “mucus” and “viscidus”, which are translated as “mucus” and “sticky”. The term describing the disease rather accurately implies thick, sticky mucus, which adversely affects the organs of respiration, the gastrointestinal and urogenital tracts, causes kidney damage and ways to excrete urine.

According to the latest data of scientists, about six hundred varieties of mutated genes have now been discovered.

Causes

Many patients ask themselves when detecting cystic fibrosis, what kind of disease, how and why it appeared in them.

When detected in the gastrointestinal tract of cystic fibrosis, the reasons for specialists are as follows:

• Since the pancreas is involved in the secretion of enzymes in the blood, it can be attributed to the organs of internal secretion. The secreted enzymes enter the bright space of the duodenum, their intended purpose is the full digestion of nutrients. So why is cystic fibrosis diagnosed? The fact is that when a child is inside the womb, his exocrine glands develop later than the prescribed period. And when a baby is born, there is a deformation of the pancreas, which causes interruptions in the work, the release of highly viscous mucus lingering in the lumens located in the pancreatic ducts. Mucous enzymes are activated, gradually begin the destructive process.

• There is a violation of digestion. As a result, the baby has a viscous, fetid stool. Such a tight stool causes bowel obstruction, so there are constipation, causing quite painful, swollen belly. The process of absorption of nutrients is violated, there is a lag in the physical development of the child, also a decrease in the efficiency of the immune system.
• Other organs of the gastrointestinal tract may be subject to gene pathology, which causes negative pathological changes, but the consequences are not as serious as in the two cases described above. Although there may be problems with the liver, gall bladder, salivary glands.

Respiratory cystic fibrosis (or pulmonary cystic fibrosis) may also develop.

Its progression usually occurs in the following scenario:

• First there is a stagnation of mucus in the bronchi, which upsets the mechanism for cleansing from smoke, harmful gases, as well as the smallest particles of the type of dust that a person can inhale from the environment around him. Microbes that are widespread everywhere are stuck in the small bronchi, the lung epithelium. A coarse mucus - a very favorable environment for the occurrence of harmful bacteria (maltofia, septic, etc.).
• Due to the stagnation of mucus, the emergence and development of bacteria begins inflammation, subsequently leading to failure of the protection system in the epithelium of the bronchi. There is a structural violation of tissue with cilia, which are the main means of cleansing the bronchi. There are also special cells designed to protect, normally secreting protection proteins (immunoglobulin class A) into the bronchial lumen. According to experts, for example, Dr. Komarovsky, with a decreasing amount of such proteins, cystic fibrosis of the lungs can be detected.
• Owing to the destructive processes taking place, a rapid destruction of the bronchial skeleton occurs, which consists of a flexible and springy tissue. There is a gradual decline of the bronchi, a narrowing of their lumen, causing stagnation to increase, bacteria develop, and pathogenic changes appear.

Although it is worth noting that, thanks to patanatomii, the changes that occurred in the cells are being studied, even drugs such as Orcs (a very popular drug in the USA) have been created.

Symptoms

A child may be born with this pathology, but no symptoms manifest at the same time, therefore, cystic fibrosis is considered mainly in adults.

This happens only in four percent of cases of the disease, while the vast majority of the disease manifests itself in the first years of life. In adults with cystic fibrosis, the symptoms are similar to those of children, but there are still differences.

Respiratory cystic fibrosis

The disease can affect the lungs and bronchi. How does this happen? The disease begins imperceptibly, with the passage of time, the symptoms progress, after which the disease becomes chronic. Only when a baby is born does a baby not yet possess sufficiently developed sneezing reflexes, coughing. That is why a large amount of sputum accumulates in the cavities of the nose, the nasal pharynx, the oral pharynx, and the bronchi.

Nevertheless, cystic fibrosis does not manifest itself before the child reaches the semi-annual mark. This is usually associated with the transfer of a six-month-old baby by nursing mothers to a mixed diet, thereby reducing the amount of breast milk received by the infant.

This fact has such an impact, since mother’s milk contains a large number of nutrients, including immunity cells, which protect the little man from the negative effects of harmful bacteria. Since the milk becomes less protective cells, too, which immediately affects the condition of the child. If you add to this, and the stagnation of thick mucus, the mucous membrane of the trachea, bronchi necessarily infected.

And all parents care about how much their child will live with such a disease. The answer will please them - the little man will not die, there will only be a delay in physical development. And you can live with such a diagnosis: a rather high percentage of gifted people with cystic fibrosis is noted. It should be noted that such a person can be born subsequently completely healthy children.

So, in respiratory cystic fibrosis, symptoms at the initial stage are as follows:

• When coughing, a small amount of viscous sputum is secreted. Cough is permanent, which greatly weakens the child, interferes with sleep, and the general condition is quite exhausted. Skin color instead of normal pink becomes bluish, shortness of breath occurs.
• Body temperature is usually either at a normal level or slightly elevated.
• There are no manifestations of intoxication.

  Prolonged oxygen starvation does not contribute to the physical development of the child:

• He is not gaining body weight (in normal condition up to ten and a half kilograms).
• The child is lethargic, pale, apathetic, which serves as a signal of retarded development.

  If the disease progresses, severe pneumonias appear:

• Body temperature rises to 38-39 degrees.
• Intense cough, discharge thick, purulent.
• Dyspnea becoming stronger when the child coughs.
• Signs of intoxication appear: headache, vomiting, nausea, dizziness, impaired consciousness.

Pneumonia periodically exacerbated, over time destroy the lung tissue, can lead to complications.

Other symptoms in respiratory cystic fibrosis:

• Barrel breast shape.
• Dry, inelastic, inelastic skin.
• Dull, brittle, falling hair.
• Dyspnea.
• Cyanotic skin color, because there is not enough oxygen.

The consequence of the symptoms described above is the appearance of heart failure. It appears when the heart fails to promote blood in the deformed respiratory organs, and the load on the heart muscle increases, which stimulates its growth.

Symptoms of heart failure:

• shortness of breath even at rest, increasing with increasing physical activity.
• Blue skin (gradually from the tips of the fingers to the whole body).
• Heart palpitations to compensate for insufficient blood circulation.
• Lag in fizrasitii, insufficient weight, height.
• Evening swelling of the legs.

Cystic fibrosis in the digestive tract

   Here the exocrine glands of the pancreas are affected, the following manifestations become noticeable:

• stomach swelling due to increased gas, because digestion is not enough.
• Severe and uncomfortable condition inside the abdomen.
• Girdle pains, aggravated by eating fried, fatty foods.
• Diarrhea. Lack of lipase, capable of processing fat, leads to its accumulation in the colon, the attraction of water into the lumen. From this the chair becomes watery, odorous, acquires a remarkable shine.

Video

Video - muscoviscidosis in a child

Diagnostics

When cystic fibrosis diagnosis includes several stages. The best state of affairs is a survey of future parents on genetic components. When pathologies are detected in the gencode, the doctor informs them about it, conducts an explanatory conversation about the perceived risk and possible consequences.

However, such studies are very expensive, not every couple can afford it. Therefore, the main responsibility falls on pediatricians who, at the slightest suspicion of cystic fibrosis, should conduct various studies (sweat test, blood test, feces, research using technology).   After identifying the disease at an early stage, serious complications can be avoided..

Laboratory research

   The following analyzes are performed in the laboratory, which can reveal changes in the functioning of certain organs and systems:

• the first cystic fibrosis test is a sweat test. In 1959, scientists have developed a special sweat test, which is used today. What is this test? Before the sweat sample is analyzed, Pilocarpine is previously introduced into the patient’s body, then the number of chlorine ions that the sweat sample has is determined. Under the influence of the drug, the salivary, lacrimal glands secrete mucus more intensively, and the sweat glands secrete a more abundant amount of sweat.

The examination criteria confirming the diagnosis is the increased amount of chlorides that the patient's sweat sample contains (chlorine is above 60 mmol per liter). The procedure is repeated three times at regular intervals.

• Blood test. It will show a reduced number of red blood cells, hemoglobin, that is, anemia.
• Analysis of feces. Fecal masses contain an increased amount of fat and dietary fiber, which have not been digested.
• Analysis of secretions. In cystic fibrosis, sputum should contain pathogenic bacteria and protective cells.

Other studies

1. Measurement of physical indicators.

Such an examination implies measurement:

• head circumference;
• growth;
• weights;
• circumference of the chest.

Pediatricians specifically to determine the degree of development of the child have developed a table to help you understand whether everything is in order with the little man of his age.

2. Chest X-ray. On a radiograph, a clear picture is not determined, the result is affected by the extent of pathology in various organs and systems.

3. Ultrasound examination. It is carried out only in the presence of a strong lesion of the heart, liver, gallbladder and in order to prevent.

Treatment

Therapy of this disease is a difficult event, mainly doctors treat only the symptoms, not allowing them to develop further.

However, in cystic fibrosis, treatment consists of several procedures:

• periodic cleansing of the bronchi from thick mucus;
• blocking the ability of bacteria to multiply and spread further along the bronchi;
• maintaining a high level of functioning of the immune system, which is achieved while maintaining proper nutrition, including nutrients;
• avoidance of stressful situations due to the permanent state of fatigue, medication, and various procedures.

If a patient has acute inflammatory processes, antibiotics, glucocorticoids, oxygen therapy, and physiotherapy may be prescribed.

Kinesitherapy for cystic fibrosis is also commonly prescribed.. It consists of a set of exercises, obligatory for all patients.

This complex includes:

• postural drainage. Thanks to this exercise, there is an intensive separation of mucus from the bronchi. The patient lies down on the bed and then successively turns from side to side, from back to stomach.
• Vibrating massage. The chest of the patient knocks in a special way, which causes the patient to cough and, accordingly, to release mucus.
• Active breath cycle. First you need to breathe calmly and measuredly, then make deep and fast breaths and, finally, strong and fast exhalations.

With the respiratory type of the disease and the absence of an irreversible damage to other systems, lung transplantation is possible in cases of cystic fibrosis. However, transplantation may be meaningless if there is an irreparable development of pathology in other organs.

Conclusion

Thus, we can note the serious nature of the disease, in which some complications may develop, but cystic fibrosis is rarely fatal. It is important to notice the symptoms of the development of the disease at the initial stage to prevent the situation from worsening.

In the future, only the symptoms are treated, but the changes in the person are noticeable only in the physical plane, with mental activity, everything is in order.

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Hereditary disease of the endocrine glands, as well as the pancreas and liver, characterized primarily by damage to the gastrointestinal tract and respiratory organs. In the pathogenesis of cystic fibrosis lies a hereditary lesion of the exocrine glands, glandular cells of the body, secreting the cells of the bronchi, pancreas, intestines, liver (biliary function), sweat glands. Common in the pathology of all glands of external secretion is a violation of the transport of chlorides through the membranes of epithelial cells. This process is accompanied by excessive release of chlorides, resulting in hypersecretion of thick mucus in the cells of the endocrine pancreas, bronchial epithelium, and the mucous membrane of the gastrointestinal tract, which is accompanied by a violation of their secretion.

This violation leads to congestive obstructive changes in the respective organs with subsequent inflammatory and sclerotic changes. In the secretive secrets of the body with cystic fibrosis is observed:

• change in the ratio of protein-carbohydrate components;
• there is a decrease in electrolyte re-sorption in the excretory ducts of the sweat glands;
• the pancreas does not produce the right amount of enzymes.

Cystic fibrosis is one of the fairly common hereditary diseases. It is caused by mutations in the transmembrane conduction regulator gene, part of which forms the chloride channel.

The gene is called CFTR (cystic fibrosis transmembrane regulator (CFTR: cystic fibrosis transmembrane conductance regulator). As a result of mutation, the lung epithelium is defective in this regulator. This leads to chronic infections, inflammation and gradual destruction (derangement) of the respiratory apparatus. Some mutations in the CFTR gene lead to decrease in the synthesis of protein KFTR due to incomplete processing of RNA, others - to qualitative changes in membrane chlorine channels.One primary biochemical anomaly (violation of chloride transport) causes the occurrence of multi organ pathological process (progressive lesion of the respiratory tract, chronic sinusitis, insufficiency of the exocrine pancreatic secretory function, sterility in men).

Cystic fibrosis incidence

Cystic fibrosis occurs on average in 1 out of 2,000–3,000 newborns, and among black African and Japanese populations, its incidence is 1: 100,000. Cystic fibrosis is a systemic hereditary disease that usually manifests itself in childhood, although in 4% of cases a diagnosis is made in adulthood. Cystic fibrosis is inherited autosomal recessively. The prevalence of the disease is very different in different ethnic groups. Among the white populations of North America and Northern Europe, cystic fibrosis occurs in 1 out of 3,000 live newborns, while in American blacks it occurs in 1 out of 17,000, and in Polynesians inhabiting Hawaii, only 1 out of 90,000.

Since the treatment of cystic fibrosis began to use antibiotics and enzyme preparations, the life expectancy of patients has increased. Now, almost 34% of them reach mature age, and about 10% of patients live more than 30 years. The average life expectancy is 28 years. So, cystic fibrosis can no longer be considered a childhood disease. He must be able to recognize and treat every therapist. Cystic fibrosis is manifested by chronic lung infections, which ultimately lead to bronchiectasis, insufficient exocrine pancreatic function, impaired function of sweat glands, kidneys and gastrointestinal tract, as well as to infertility.

Symptoms of cystic fibrosis

Most of the symptoms of cystic fibrosis are thick and sticky mucus. The most common symptoms of cystic fibrosis include:

• frequent coughing up with sputum;
• frequent bouts of bronchitis and pneumonia, they can lead to inflammation and temporary damage to the lungs;
• salty taste of the skin;
• dehydration, diarrhea or foul-smelling, greasy stools;
• good appetite, but lack of weight;
• dysplasia in height - a person stops growing, because does not receive the necessary nutrients;
• stomach pain and discomfort, because a large amount of gas accumulates in the intestine;
• impotence.

Cystic fibrosis can lead to the following disorders. Sinusitis: the sinuses are the sinuses that are located in the bones of the skull next to the nose. In the sinuses produces mucus, which wets the inner surface of the nose. When inflammation occurs in the sinuses, they are blocked by mucus and bacteria grow in them. Many people with cystic fibrosis develop sinusitis. Polyps in the nose, surgery may be required. Diseases of the bronchi: any infection can cause serious damage to the bronchi. If you do not treat diseases of the bronchi, it can lead to respiratory failure. Pneumothorax - damage to the lungs. Pancreatitis: a painful inflammation of the pancreas. . Thickening of the fingers: this is because the lungs do not facilitate the delivery of sufficient oxygen to the blood stream. Prolapse prolapse: with frequent coughing or problems with the stool, the tissue of the inner wall of the rectum can come out of it. Liver disease associated with inflammation or blockage of the bile ducts. Diabetes. The formation of stones in the gallbladder. Fragile bones due to lack of vitamin D.

Cystic fibrosis treatment

The diet of a patient with cystic fibrosis should be age appropriate, contain an increased by 10-15% amount of protein and a normal amount of fat and carbohydrates. In this case, only easily digestible fats (butter and vegetable oil) are included in the diet. Food should not contain coarse fiber. In children with secondary lactase deficiency, milk is excluded. In cases of severe intestinal syndrome and symptoms caused by the deficiency of various vitamins, parenteral vitamins are prescribed. In case of intestinal syndrome, enzyme preparations are used for replacement purposes: patients with cystic fibrosis need to take new microspherical enzymes with an acid-resistant casing - Creon or Pancytrat, which are more effective than such well-known forms as panzinorm, mezim-forte, festal. Drugs are taken throughout life, with each meal. The dose of the enzyme depends on the severity of the disease and is selected individually. The criteria for dose adequacy are the disappearance of abdominal pain, normalization of stool, the absence of neutral fat in scatological research, the normalization of weight. Enzyme preparations taken with food.

Treatment of pulmonary syndrome includes measures to reduce the viscosity of sputum and improve bronchial drainage, antibiotic therapy, the fight against intoxication and hypoxia, hypovitaminosis, heart failure. To reduce the viscosity of sputum, inhalations of enzyme preparations (himopsin, chymotrypsin, crystalline fibrinolysin) or mucolytic drugs, acetylcysteine, mucosolvin are used. In order to liquefy sputum, acetylcysteine ​​and mucosolvin can be administered intramuscularly, and mucosolvin can also be administered internally. Bromhexine and mucaltin have a weaker diluting effect. To improve the drainage of the bronchi, a vibratory massage of the chest, medical gymnastics, postural drainage are carried out; in young children the sputum is removed with an electric suction pump. When exacerbation of the pulmonary process prescribed antibiotic therapy for at least 3-4 weeks. Antibiotics are selected taking into account antibiograms, but if this study cannot be done, it is based on the fact that the most common pathogens of the inflammatory process in the lungs in patients with M. are staphylococcus and Pseudomonas aeruginosa.

Simultaneously with antibiotics use antifungal (nystatin, chevorin) and antihistamines. During the exacerbation period, UHF and microwave therapy is also performed. and then electrophoresis of hearth and magnesium preparations (calcium preparations are contraindicated, as they increase pneumosclerosis); prescribed multivitamins, to reduce pulmonary hypertension - aminophylline at 7-10 mg / kg body weight per day inside (dose divided into 3 doses) for 4-5 weeks. from the onset of exacerbation. Showing drugs that improve the metabolism of the myocardium: potassium orotat, cocarboxylase. For decompensation of the pulmonary heart, cardiac glycosides (digoxin), glucocorticoids are used (1-1.5 mg / kg per day in terms of prednisolone, taking into account the daily rhythm of the adrenal glands for 3-4 weeks). Glucocorticoids in the same dose are also prescribed for the rapid progression of pneumosclerosis, and for chronic adrenal insufficiency that has developed as a result of purulent intoxication and hypoxia, at a dose of 0.4 mg / kg per day on prednisolone, taking into account the daily rhythm.

Treatment of cystic fibrosis in children

Children suffering from cystic fibrosis are under the dispensary supervision of a local doctor and pulmonologist, because, despite the generalization of the process and changes in many organs and systems, respiratory failure is noted in most patients and it determines the severity and prognosis of the disease. Parents should be trained in patient care and treatment methods such as massage, physiotherapy, aerosol therapy. The tasks of the follow-up are monitoring the functional state of the bronchopulmonary, cardiovascular systems, gastrointestinal tract, kidneys, liver and the correctness of the dose of enzyme preparations, timely treatment for exacerbation of the disease, conducting general strengthening therapy, in the period of remission - rehabilitation of foci of chronic infection.

Treatment is carried out on an outpatient basis and at home, where the child can be provided with individual care and reinfection is excluded. Only in case of a serious condition or the presence of complications is hospitalization indicated. Intensive therapy is carried out in patients with respiratory failure II-III degree, with decompensation of the pulmonary heart, with pleural complications, destruction of the lungs, hemoptysis. Surgery is indicated in case of meconial obstruction, with no effect from conservative therapy in intestinal obstruction in older children, sometimes with destruction in the lungs. In bronchiectasis surgical treatment is not recommended, because the process is always common. Patients with cystic fibrosis children receive all medicines for outpatient treatment for free.

Sanatorium treatment is indicated for children with mild and moderate intestinal forms of cystic fibrosis. Sanatorium treatment is useful for children with the pulmonary form of cystic fibrosis, if it is possible to create special groups. Patients with cystic fibrosis are recommended to be sent to local sanatoria. The criteria for selection in the sanatorium are compensation of intestinal disorders in the appointment of enzyme preparations, the absence of pulmonary heart decompensation and an inflammatory process in the lungs. The stay of patients with cystic fibrosis in preschool institutions is inexpedient. School attendance in good and satisfactory condition is possible, but an additional day off per week is necessary, and free school attendance on days of treatment and examination at the clinic (at the pulmonary center), exemption from examinations. The question of the possibility of vaccination of children with cystic fibrosis is decided individually. Children with cystic fibrosis are not removed from the dispensary registration, but upon reaching 15 years of age they are transferred under the supervision of a therapist to an outpatient clinic for adults.

Questions and Answers on "Cystic Fibrosis"

Question:   Son 2.8, weighs 13,400. Since a year, problems with the stool are either mushy or constipated (when there is constipation, blood appears in the stool). In the coprogram neutral fats in moderate or large quantities, soaps, fatty acids, iodophilic flora, Giardia. The skin has a yellowish tint, especially handles and feet. Blood biochemistry - all within normal limits. A pediatrician and a gastroenterologist blame everything on lamblia and the age immaturity of the pancreas, and they do not see the problems. Analysis for antibodies to hyadin and tissue transglutaminase - within normal limits. Do I still need to be tested for cystic fibrosis? The same problem is with the younger child (1,3).

Answer:   Research for the diagnosis of cystic fibrosis should be conducted in children with recurrent bronchopulmonary diseases, as well as with underweight and steatorrhea. This means that your child needs to conduct a study to rule out cystic fibrosis. And if a younger child has similar test results and weight gain is insufficient, then he also needs to conduct this study.

Question:   Hello! My question is: can cystic fibrosis develop suddenly in an adult? What is the reason for its appearance and how scary it is.

Answer:   Cystic fibrosis can make itself felt at any age. It all depends on the mutations. Heavy mutations let you know about the disease from the first days of life.

Question:   What is the life expectancy of patients with cystic fibrosis?

Answer: Forty years ago, when doctors still knew little about the disease and there was no medicine for it, the majority of people suffering from cystic fibrosis did not live to 5 years. Now the average life expectancy of such patients in Europe is 50 years or more, in Russia it is from 25 years and more.

Question:   Hello! Maybe you can help! The child is 9 months old, all the time the phlegm is going, it flows out, then into a cough, then into a cold! Already three months! They were already in the hospital, they were clean on X-ray, electaz was supposed. The diagnosis was made by laryngotracheitis and bronchitis. Discharged, but the cough happens, breathing is noisy. According to blood tests, the child does not get sick, all the indicators are normal. On chlamydia and mecaplasm ref, whooping cough den. It began after the summer, all the time wheezing, sputum gets up in the throat, then coughs it, then no. And snot, then flow, then thick! And like and not sick! What can it be, and to what doctor to go!

Answer:   Be sure to consult an allergist, perhaps this cough is an allergy phenomenon. You also need to pass a stool sample Shvahmana to exclude cystic fibrosis.

Question:   My daughter has cystic fibrosis. She is 1.5 years old. Enteric pulmonary form. From birth, we take "CREON 10,000" 7,500 thousand 3 times a day. She has frequent bronchitis. Full recovery in 2-3 weeks. Now we have been prescribed by a geneticist the drug "Pulmozim". He has a huge list of severe side effects and there is little data on the tolerance of the drug in children under the age of 5 years. Whether his appointment at this stage is justified: there is no deterioration in well-being, the child is active, pneumonia has never been sick, bronchitis often happens. Do we put a disability? Doctors at the ITU commission say that if there is no dynamics for the worse, then we are not entitled to a disability by law. Is it so?

Answer:   Usually, Pulmozyme is prescribed to patients with cystic fibrosis as a symptomatic therapy. Outside of exacerbations (bronchitis, pneumonia) this drug is not prescribed. As for disability, then, according to the laws of the Russian Federation, children who have been diagnosed with cystic fibrosis should receive the status of disabled children.

Question:   Is the diagnosis of cystic fibrosis possible in the presence of trypsin in feces and fecal elastasis at 170.3 µg?

Answer: Cystic fibrosis is a rather complicated disease. Such a diagnosis cannot be made on the basis of a single analysis result. If you suspect muscoviscidosis, a comprehensive examination is carried out, which includes: Assessment of general health, development. Presence of long-term diseases (respiratory organs, pancreatitis, cholecystitis, colitis); Sweat test (iontophoresis is carried out with the drug pilocarpine); Determining the level of chymotrypsin and fatty acids in the stool; DNA diagnostics. Only after a comprehensive examination, the doctor can make a diagnosis such as cystic fibrosis. In your case, I recommend contacting your local doctor, who will conduct the necessary examination and be able to prescribe treatment.

This disease leaves an imprint on the child's entire life, starting in infancy. Over time, cystic fibrosis damages virtually every organ system (intestinal, respiratory, sexual, etc.) to a greater or lesser extent. Even 40 years ago, this pathology was considered exclusively pediatric, as young patients did not live to adolescence, and even more so the older age. However, thanks to the modern level of medicine, this statement remains in history. Currently, patients reach 30-45 years of age, with adequate therapy.

Why does cystic fibrosis occur?

Despite the fact that the first symptoms of cystic fibrosis in children can appear only in 6-7 months, this pathology is considered congenital. The reason for its development is the change of one of the chromosomes, which is responsible for creating an important protein regulator. Without it, the composition of all fluids secreted by the glands (pancreas, sweat, liver, etc.) is disturbed.

This genetic defect is quite rare - in one child out of 3 thousand. However, if a mutation has occurred, it cannot be corrected. That is why cystic fibrosis is considered an incurable disease, but not fatal. With the help of properly prescribed therapy, you can maintain the quality of life of patients at a decent level for a long time (several decades).

How does cystic fibrosis develop?

Each person has organs, the purpose of which is to produce special fluids (secret) for the normal operation of all systems: respiratory, digestive, excretory, and others. They are designated by one term - "external secretion glands". Why "external"? Because biologically active substances do not enter the blood, and ultimately are excreted into the environment. It is these organs that primarily suffer from cystic fibrosis.

All symptoms of the disease occur for one reason - a change in the composition of fluids secreted by the glands. They become much thicker than they should be normal. Because of this, the secret stagnates in the ducts, damages the organ and does not perform its function.

The organ in which the "stagnation" of the secret occurs	The composition of the secret is normal	Implications for the body
Pancreas	This is the most important organ, the secret of which contains all the necessary enzymes for the digestion of proteins, carbohydrates (sugars) and fats.	Without the enzymes secreted by the pancreas, food digestion is impossible. Therefore, any incoming nutrients will be "transited" through the intestines and practically not absorbed into the blood.
Liver	The production of bile is the main exocrine function of the liver.	Lesions of this gland are quite rare (in 5-7% of patients). Manifest liver fibrosis and signs of portal hypertension.
Glands of the respiratory tract	Virtually the entire surface of the respiratory tract is covered with special mucus, which allows you to remove microscopic foreign bodies (dust, liquid droplets, allergens, etc.) and contains antibodies from harmful microorganisms.	The "thickening" of the secret leads to the blockage of the small bronchi, the deposition of bacteria and viruses, and the impaired ventilation of certain areas of the lungs.
The male sex glands are the testicles. The disease has no effect on the female reproductive system.	Normally, the testicles produce spermatozoa, which are brought out through the tubule system during ejaculation.	When cystic fibrosis, as a rule, the genital tract in men is blocked, which leads to infertility.
Sweat glands	Together with that, a part of “superfluous” microelements and liquids is released.	When cystic fibrosis with a large amount of chlorine and sodium is released, because of what it becomes very salty and sticky. In addition, excessive loss of trace elements can lead to disruption of the entire body (in particular - the heart and muscles).

Given the mechanism of the disease, you can say exactly what symptoms it will manifest. This moment is very important for timely diagnosis and successful treatment of pathology.

Symptoms of cystic fibrosis

To a greater or lesser extent, the disease affects almost all exocrine glands. Therefore, its symptoms can be very diverse - from diarrhea to attacks of breathlessness. It is this variation of symptoms that should alert parents and doctors. The first signs of cystic fibrosis appear, as a rule, in the first year of the infant's life. In rare cases (up to 10%) - in the first days after birth.

Cystic fibrosis of newborns

As you know, the first bowel movements of a child are different from all subsequent ones. The feces of the child, mainly consists of partially digested amniotic fluid, swallowed in the womb of the mother. Pediatricians and neonatologists call it "meconium." Unlike regular stools, it is odorless (since it contains almost no bacteria), more viscous (the texture is similar to resin), which is a characteristic brown-yellow color.

Cystic fibrosis in newborns may manifest as intestinal obstruction, due to blockage of the original feces. Due to the fact that the secret of the digestive glands is much thicker than it should be normal, disrupts the normal passage of meconium. It stagnates at a certain level and does not allow digested milk and gases to pass.

Why is this dangerous? Above the level of stagnation of the feces, the intestines begin to stretch and become damaged, due to which toxins can penetrate the baby’s blood. If the obstruction has not been promptly determined, the organ wall may break and cause the development of peritonitis (inflammation of the peritoneum). The level of harmful substances in the blood, in this case, reaches a critical value and often leads to the death of a small patient.

How does meconic obstruction manifest? A child cannot say that he has a stomach ache, therefore, pathology can be diagnosed only by external data and his behavior:

• The newborn does not have a stool and the discharge of gases for a long time;
• Hysterical crying is characteristic, which increases with palpation of the tummy. The child tries to lie still, since the movements cause him pain;
• If you examine the abdomen, you can note the presence of swelling, sometimes see a wall seal and even the contour of the intestine;
• When probing, it is easy enough to determine the area on which the obstruction is located - with your fingers you can feel the dense swollen intestinal wall. Below the level of stagnation, the diameter and density of the organ become normal.

Even with the slightest suspicion of this pathology, an urgent need to call the doctor (preferably a neonatologist or pediatrician). He will be able to objectively assess the condition of the child and confirm / deny the presence of intestinal obstruction.

Cystic fibrosis in young children

Most often, children with cystic fibrosis are detected at 5-7 months of life. Pathology can manifest itself in different ways, but two signs are most characteristic of small patients - a decrease in weight gain and damage to the respiratory tract.

In the first half after birth, the child must add a minimum of 500 g per month in a mass. By 6 months, infants should weigh about 8 kg, and by 12 - not less than 9.5 kg. Delayed development can be caused by various reasons: unbalanced diet, intestinal infections, endocrine diseases, etc.

Suspected cystic fibrosis, as a factor in reducing the weight of the child, should be combined with respiratory disorders and permanent violations of the chair. The feces can be liquid, it is possible to change its consistency - it becomes “fat”, it is strongly smeared and it is difficult to wash off from the diapers. Its color is unchanged or becomes yellow. In some cases, takes on a sparkling look.

The typical respiratory symptoms of cystic fibrosis in infants should include:

• Persistent dry cough that subsides somewhat after treatment, but recurs several weeks after the “recovery”. More often, the seizures are aggravated at night, due to the lying position of the infant;
• Episodes of choking - the child coughs and chokes, due to blockage of part of the respiratory tract mucous plug. If he clears his throat, a small amount of thick, viscous mucus comes out. The liquid may be clear or colored dirty green (if infected with bacteria);
• Frequent repeated infections of the respiratory tract (rhinitis, pharyngitis, bronchitis, etc.). Not infrequently cystic fibrosis is hidden under the mask of “chronic bronchitis”, which is difficult to treat and occurs with frequent exacerbations.

Note once again, a combination of symptoms of the digestive and respiratory tracts is very characteristic of this disease. Over time and without adequate therapy, they will only develop, taking a chronic relapsing course.

Symptoms of damage to various systems

As the child grows up, this pathology will develop with it. If correct therapy was prescribed since childhood, the disease can be partially controlled and most relapses can be prevented. However, regardless of the treatment, the symptoms of cystic fibrosis in adults can be supplemented by new signs of system damage:

Affected system	Characteristic features
Digestive	Delayed physical development - is a consequence of poor absorption of nutrients (due to the lack of pancreatic enzymes); Violations of the stool (the same as in young children); Symptoms of portal hypertension (enlargement of the spleen; swelling of the veins of the abdomen, lower extremities, esophagus; swelling of the lower half of the body). Much less: Diabetes mellitus (a consequence of the formation of cysts in the pancreas); Hepatic impairment (due to organ replacement with connective tissue). Manifested by increased bleeding, signs of intoxication (constant weakness, headache, nausea), swelling throughout the body.
Respiratory	Formation of atelectasis - some areas of the lung "subside" due to bronchial obstruction with mucus. This condition is manifested by shortness of breath and dry cough; Frequent infectious diseases of the respiratory tract - the stagnation of mucus contributes to the accumulation of harmful microorganisms. Because of this, patients experience respiratory illnesses (from flu / parainfluenza to recurrent pneumonia); Periodic hemoptysis - associated with damage to the mucous membrane of the wall of the bronchi.
Sexual	Male infertility - despite the fact that the production of spermatozoa in these patients is not disturbed, due to blockage of the ducts, normal ejaculation is impossible. Conception can be accomplished with the power of IVF technology, taking puncture seminal fluid from a man.

With most of these symptoms, modern medicine can cope with the help of drugs, but some changes in the internal organs become irreversible. Therefore, it is important to timely identify the disease and prevent the development of severe forms of pathology.

Cardiopulmonary insufficiency

Although this condition is not directly related to cystic fibrosis, it can occur with this disease. The reason lies in a serious violation of the patency of the respiratory tract. Over time, most of the small bronchi closes with mucus and ceases to conduct oxygen. Due to the fact that the remaining respiratory tract can not deliver the same amount of air for gas exchange, the heart has to “pump” blood to the lungs much more intensively.

Some years, these processes can not be shown in any way as bodies cope with the raised loading. Gradually, the right side of the heart begins to increase in size, since it can no longer perform the “work” entrusted to it. Quickly enough, its compensatory capabilities expire, and the blood begins to stagnate in the cavity of the organ and pulmonary vessels. It is at this stage that cardiopulmonary insufficiency (LSN) develops.

How does it manifest itself? Suspecting her without special studies is easy enough. The following signs are characteristic for LSN:

• Shortness of breath. At the very beginning of the process, a symptom can occur only after mental / physical exertion (severe stress, climbing stairs, etc.). However, the process progresses and in severe cases, shortness of breath begins to appear spontaneously, without any provoking factors;

• Moist cough . Occurs due to stagnation of blood in the pulmonary vessels and the sweating of its liquid part in the intercellular space;

• Pallor of the skin. Typical manifestation of lack of oxygen for tissues;

• « Drumsticks". This is a characteristic change in the fingers, manifested by thickening of the nail (end) phalanges. It is characteristic of severe LSN, in which the work of not only the right, but also the left heart is disturbed;

• “Watch glasses”. Changing fingernails in the form of their thickening, bulge and making a round shape. As a rule, occurs in conjunction with the symptom of "drumsticks".

The presence of this condition is an unfavorable prognostic sign, since pulmonary heart disease significantly impairs the patient's quality of life. Get rid of it is impossible,.

Diagnosis of cystic fibrosis

It is important to detect the relationship between the symptoms of cystic fibrosis as early as possible in order to correctly diagnose, rather than treat, “false” bronchitis, dysbacteriosis, lactase deficiency and other pathologies that the child never had. First of all, it is precisely such a variation of symptoms that occurs in a small patient almost simultaneously at the same time to alert the doctor and parents.

In addition to the characteristic clinical picture, it is important to use special laboratory techniques. Classical blood tests, urine will not give a clear picture. You can confirm the diagnosis using a simple, but unusual method - examining the patient's sweat. In cystic fibrosis, the content of electrolytes (chlorine and sodium) in it should exceed the norm by a factor of 3-5.

If the doctor doubts the results of the study or the symptoms do not allow an unequivocal conclusion, the child will undergo a genetic examination. If a gene defect in a regulator protein is found, there is no doubt about the presence of the disease.

As additional methods to assess the condition of the body and its individual systems, you can use:

Research method	Changes in cystic fibrosis
Biochemical blood test	Decrease / increase of chlorine levels (more than 106 or less than 98 mmol / l) and sodium (more than 145 or less than 135 mmol / l;) Signs of liver damage: The increase in ALT and AST is considered a significant increase in performance by 1.5-2 times from the norm (more than 60 U / l); Decrease in fibrinogen (less than 2 g / l); Increase in total (more than 18 µmol / l) and bound (more than 5.2 µmol / l) bilirubin. Signs of pancreatic injury: Increased alpha-amylase (more than 51 U / l).
Clinical analysis of feces	"Masovy" nature of feces; pH (acidity) more than 8 - alkaline environment of feces; The appearance of fatty acids, fiber, starch, connective tissue in the stool.
Sputum analysis	With a bacterial infection, sputum acquires a green color and a sour smell; In any bacterial / viral disease, white blood cells can be detected; Blood cells (erythrocytes) in sputum and epithelium particles indicate damage to the wall of the bronchi. Bacteria can be released from the material under study.
Some instrumental methods (x-ray / CT scan of the lungs, ultrasound, bronchoscopy, etc.)	Appointed to assess the performance of one of the systems or as a medical procedure (bronchoscopy).

As a rule, these studies are enough to make a definitive diagnosis and determine the amount of necessary treatment.

Modern treatment of cystic fibrosis

Since it is impossible to restore the damaged chromosome and completely get rid of this pathology, treatment should be aimed at restoring the functions of individual organs. In cystic fibrosis, the main burden, as a rule, falls on the digestive and respiratory systems; therefore, the correction of their work is the primary task of therapy.

Medical nutrition of infants

It is very important to organize the nutrition of infants with cystic fibrosis. This will help prevent the child’s developmental delay due to nutritional deficiencies and strengthen his body from harmful external influences. Note the most important points:

1. If the mother of the child does not suffer from infectious diseases, including chronic (HIV, hepatitis, etc.), breastfeeding is always better than synthetic formulas. It is optimally absorbed in the intestines of the child, as it is created only for him. It also contains substances (antibodies) that protect the body of the infant from pathological microorganisms;
2. If it is not possible to feed the baby with mom's milk, you should use special “adapted” mixtures that are easier to digest in conditions of impaired digestion. These include: Humana LP + SCT, Alphare, Nutrilon Pepti TSC, Pregestimil and others. Choosing the best option will help the attending pediatrician;
3. If the child has confirmed the lack of pancreatic enzymes, it is necessary to fill their deficit, starting from an early age. To do this, there are modern drugs in the form of microgranules, which are enclosed in one capsule: Kreon, Hermital or Panzinorm. The dose should be selected individually. As a rule, children under one year old need 1/3 or 1/2 of one capsule;
4. Feed should be at the request of the child. A signal to this is the "hungry" crying. Most often, it looks like this - the baby cries for a certain time, and then calms down for a few minutes, waiting for the result. If he is not fed, he continues to cry.

Each of these points is explained to the parents of a small patient by neonatologists / pediatricians immediately after identifying the disease. It is important to be responsible for feeding, as this will have a big impact on the future quality of life of the child.

Therapeutic nutrition of adolescents and adults

For older patients, proper nutrition does not lose its relevance, but the requirements for it are much easier to fulfill. There are only three of them:

1. High-calorie meals should prevail in the diet - the daily rate in patients with cystic fibrosis should be 1.5-2 times higher than in healthy people. Calories should be distributed evenly throughout the day for 4-5 meals;
2. If the patient has proven deficiency of digestive enzymes, adequate doses of replacement drugs should be selected. The drugs are used the same as in infants;
3. Vitamins A, D, E, K must be administered to the patient's body. As a rule, regular multivitamin complexes are prescribed for this purpose.

Such a simple correction of nutrition will significantly improve the quality of life for this disease, maintaining physical development at the proper level and maintaining immune function.

Treatment of respiratory disorders

Medical methods

The second, most common group of symptoms, along with digestive disorders, are signs of damage to the respiratory tract. The largest role in this pathological process is the blockage of small bronchi by mucus, which is why normal breathing becomes impossible. Given this moment, you can decide on the tactics of treatment - you should constantly dilute the thickened secret of the glands and expand the airways (if necessary).

This can be done with the help of two groups of drugs:

• “Thinning” drugs (Ambroxol, Acetylcysteine, Carcysteine ​​and their analogues) - thanks to this therapy, patients with cystic fibrosis can reduce the density of mucous membranes in the bronchi, due to which they can expectorant and independently restore the airway patency. For this purpose, it is also possible to use a normal solution of sodium chloride (recommended 7%) for inhalation;
• Therapy that expands the bronchi (Salbutamol, Berodual, Formoterol, Fenoterol) - the need for these drugs is determined individually. Most often, they are not used for constant admission, but only during attacks of breathlessness / shortness of breath.

As a rule, for patients with cystic fibrosis, the optimal method of drug delivery is considered to be inhalation. He allows to achieve the best effect from a smaller dose of medicine. Therefore, patients (or their parents) are recommended to purchase a nebulizer - this is a small device with which you can conduct therapy at home.

The best drug to normalize breathing. In addition to non-specific agents (Ambroxol, Acetylcysteine, etc.), which are used for any bronchitis, pneumonia and other respiratory diseases, a special medicine has been developed for cystic fibrosis DNAse (synonyms Sileks, Pulmozym). It is aimed at the destruction of mucus in the lumen of the bronchi and the improvement of its discharge. Comparing the effect of Ambroxol and Pulmozyme, it was proved that the second drug is much more effective in this pathology. The disadvantage of DNAse is its price - an average of 7,500 rubles. for 2.5 ml of solution.

Kinesitherapy

In addition to the use of drugs to restore breathing, a certain effect can be achieved from a non-drug technique called “Kinesitherapy”. Literally, this term refers to "movement therapy." This is a set of measures that mechanically affect the chest and improve the movement of mucus in the airway cavity.

What applies to kinesitherapy? Currently, the following methods are distinguished:

• Percussion massage - in the sitting position of the patient, performed rhythmic clapping beats on the chest. As a rule, start from the front surface, and then move to the back. To perform it, it is not necessary to involve a specialist - after simple training with a doctor, even family members of the patient can perform it;
• Active breathing - the usual deep breathing movements that cause the bronchi to periodically expand / contract, which improves the passage of fluid through them;
• Postural drainage - performed by the patient independently. To do this, you should put your feet on a raised surface and actively cough up sputum while lying down, turning over from the abdomen to its side. It is proved that thanks to this simple manipulation, the effect of drugs can be significantly improved;
• Devices for compression-vibration exposure - at the present time, a special apparatus has been developed, which acts by vibrating the chest, breaking up whole mucous membranes into separate parts. However, in the Russian Federation, these devices are not common.

It is very important that the treatment of cystic fibrosis in children and adults is carried out using all available techniques, to improve the patient's well-being. Since it is a severe incurable disease with a constant occurrence of exacerbations, one should not ignore the recommendations of the doctor, even if they seem insignificant (in relation to diet, kinesiotherapy, etc.).

Recent developments in the treatment of cystic fibrosis

Currently, the search for a gene cure for the disease is almost deadlocked. Therefore, scientists decided to influence not the very cause of the pathology, but the mechanism for the development of cystic fibrosis. It was determined that the condensation of secretions of glands occurs due to the lack of one trace element (chlorine). Accordingly, by increasing its content in these fluids, it is possible to significantly improve the course of the disease.

To this end, the drug VX-770 was developed, which partially restores the normal chlorine ratio. During clinical trials, doctors managed to reduce the frequency of exacerbations by almost 61%, improve respiratory functions by 24% and achieve an increase in mass by 15-18%. This is a significant success, which allows you to say that in the foreseeable future, cystic fibrosis can be successfully treated, and not just eliminate its symptoms. At the moment, the VX-770 is undergoing additional tests; it will not be available for sale until 2018-2020.

Forecast

In most cases, patients with cystic fibrosis live to be older (about 45 years), taking adequate treatment. Their quality of life is somewhat lower than in healthy people, due to regular exacerbations of the pathology and the constant need for drugs. A patient has his whole life registered in medical institutions (as a rule, regional or regional centers), where he needs to be observed every six months with a stable course of the disease.

FAQ

Question:
  If the parents are healthy, can the child have this pathology?

Yes, since parents can be carriers of the damaged gene.

Question:
  How to prevent the occurrence of cystic fibrosis?

For this it is necessary to undergo medical and genetic consultation. A few years ago, according to the government program, such centers were established in each region. However, each analysis there is paid, even if parents are at risk.

Question:
  Is it necessary to use antibiotics to treat this disease?

Only if infectious complications occur (pneumonia, purulent bronchitis, abscesses, etc.)

Question:
  Does this disease affect mental development?

No, as a rule, children with this pathology do not lag behind in mental development from their peers.

Cystic fibrosis - a disease that is caused by the presence of genetic features. It manifests itself in humans if in a close circle of relatives there are also patients with this disease.

There are lesions of the digestive organs, which are characterized by their symptoms and signs. The disease is not treatable and takes on a chronic form over time.

What it is?

In a healthy person, the pancreas produces special enzymes that, when they enter the duodenum, qualitatively break down food. As a result, nutrients enter the body that have a positive effect on the entire body.

Since cystic fibrosis is a hereditary disease, its manifestation is observed already at an early age in children. The fetus begins to form endocrine glands with a strong delay, thereby causing pathology. The pancreas undergoes deformation, and it works intermittently. Very viscous mucus is released, which begins to clog the ducts. therefore all enzymes do not enter the digestive system, and are activated in the gland, leading the body to destruction.

As a result, a digestive disturbance occurs. The stool becomes smelly, viscous and thick.   by consistency. He begins to clog the intestines, causing constipation. The patient constantly suffers from bloating. Due to the violation of the absorption of nutrients into the body of patients, there is a delay in physical development.

Destructive effects   all digestive organs are also affected. Pathological changes occur in them. Quite often, the liver, gall bladder and salivary glands are affected.

Intestinal form in children

Important!   Effective treatment, preventive measures, good nutrition will create comfortable conditions for a child with a disease. But full cure of the disease is impossible.

Newborns

Already in the first days after birth, the child is clogged with thick fecal lumen in the intestine. Such intestinal obstruction in newborns causes meconium ileus. Almost 20% of babies are diagnosed at birth. It is characterized by:

• vomiting with admixture of bile;
• abdominal swelling in the baby;
• lethargy;
• lack of appetite;
• dry and pale skin;
• perforation of the intestinal walls;
• volvulus;
• the presence of jaundice;
• violation of the outflow of bile;
• in the intestine the fusion of the lumen occurs.

Important!   Often it is necessary to resort to surgical intervention to reduce the risk of disease progression and death.

Even without parents, they can determine the disease in a baby due to the salty taste of the skin and visible crystals of salt on his body. Also, the child is practically not observed weight gain, which should be a signal of the presence of cystic fibrosis in the newborn.

In infants

The first signs of the disease in children of this age begin to manifest with the introduction of complementary foods to the diet. Fecal masses of the kid thickenthat contributes to constipation. In addition, the following symptoms appear:

• feces have a fetid odor;
• they are fatty in consistency;
• the rectum begins to fall out;
• liver enlargement occurs;
• there is a lag in development;
• deformation of the chest occurs;
• dry skin;
• belly swelling;
• skin color gets an earthy tint;
• for a long time there is a strong cough;
• in the bronchi accumulates mucus, which does not allow the baby to breathe fully;
• muscle mass below normal.

Teenagers

As the child grows up, the symptoms of mioviscidosis only increase. Therefore, to adolescence, they are pronounced and occur in severe form. During this period, there is insufficient work of the pancreas. The respiratory system is completely affected.   The teenager not only lags behind in physical development, but he does not have puberty. Approximately 18% of children of this age are diagnosed with diabetes.

The liver is so badly damaged that the teenager begins to develop cirrhosis. In addition, varicose veins are observed in the esophagus, which can cause bleeding. Due to defeat of the digestive system an ulcer occurs, gallbladder inflammation and intestinal obstruction are diagnosed. Food ceases to digest quality, which leads to putrefactive processes in the intestine, and fecal masses acquire a fetid odor.

Symptoms of intestinal forms

1. In the gastrointestinal tract there is a secretory insufficiency, which is why low-quality splitting of fats, proteins and carbohydrates occurs.
2. Putrefaction occurs in the intestine, resulting in the decomposition process produces compounds that have a high degree of toxicity. Therefore, the patient accumulates gas, and there is bloating.
3. Excrements in patients become frequent and in most cases occur more than 8 times a day. Because of this, bowel prolapse may occur in 20% of patients.
4. Patients complain of increased dryness in the mouth. Saliva becomes very viscous, and it is quite difficult for a person to chew and swallow dry food.
5. At the onset of the disease, the appetite may be normal and even increased. But as the disease progresses, appetite disturbances occur, and inadequate body mass is manifested.
6. Polyhypovitaminosis is observed due to the lack of vitamins and trace elements in the body.
7. Muscle tone is reduced.
8. The patient complains of pain in the abdomen. They can be cramping and occur most often after a coughing fit.
9. If there is a failure of the right ventricle - pain bother in the right hypochondrium.
10. If the duodenum does not neutralize gastric juice, the patient feels pain in the epigastric region. As a result, peptic ulcer disease can develop in the small intestine.
11. The patient also develops intestinal obstruction, urolithiasis, secondary pyelonephritis, latent diabetes mellitus.
12. Due to the development of cholestasis, the liver increases. It may cause itching, jaundice, increased pressure in the portal vein.
13. If a patient develops varicose vein disease, the stool becomes black.
14. Since the liver cannot perform a blood purifying function qualitatively, toxins along with the blood enter the brain and cause ephthsephalopathy.
15. The patient becomes absent-minded and forgetful.
16. Due to the increased pressure in the portal system, water accumulates in the abdominal cavity. As a result, the person develops ascites. Sometimes the volume of water in the abdominal cavity reaches 25 liters.

Cystic fibrosis treatment

In the treatment of cystic fibrosis, doctors adhere to the following tactics:

• Prescribe medications and procedures that help clear the mucus of the bronchi.
• Pathogenic bacteria and microorganisms eliminate or prevent the patient from multiplying in the patient's body.
• The doctor prescribes drugs that will enhance the immune system. For this, they prescribe not only drugs, but also select a special diet.
• Psychologists work with a patient in order to stabilize the patient's mental state and teach him to avoid stressful situations.

Also, the selection of drugs selected based on the severity of the disease. Treatment during seizures during the period of acute illness   or in the period of remission, to some extent different purpose of medication.

Preparations

If inflammatory, acute or chronic processes in the body are diagnosed, it is necessary to drink a course of antibacterial agents:

• Clarithromycin;
• Cefamunadol;
• Ceftriaxone.

Glucocorticosteroids are prescribed if the patient has acute infectious processes in the body. Prednisolin has established itself well. Drink it only courses with a strong need, as any drug from this group has side effects that cause disturbances in the body.

Important!   Glucocorticosteroid therapy should last no more than 2 days.

Oxygen therapy is carried out taking into account the indicators of oxygen in the blood, which must be at least 96%.

Conduct physical therapy, making warming in the chest. Due to this, there is an expansion of the bronchi, and improves the conductivity of air in the lungs. It is advisable to use drugswhich will help purify the mucus of the respiratory system. These drugs include:

• acetylcysteine ​​solution 5%;
• sodium chloride 0.9%;
• cromolyn sodium.

Conduct a correction of the digestive system with the following drugs:

• Creon;
• Festal;
• Panzinorm.

When violations of the liver prescribed:

• Heptral;
• Essentiale;
• Phosphogiliv.

To achieve positive dynamics   treatment should be complex and long. The patient must comply with all recommendations of the attending physician.

Cystic fibrosis determines a hereditary genetic disease, accompanied by a specific systemic lesion to the exocrine glands. Cystic fibrosis, the symptoms of which are determined on the basis of this lesion, is a chronic and incurable disease, accompanied by a violation of the respiratory system, as well as disorders related to the functions of the organs of the digestive system, including a number of other concomitant disorders.

general description

Cystic fibrosis (CF) as this definition of actual pathology is used in Europe (and, actually, in our country), while in Canada, Australia, the USA and in other countries it is defined as “cystic pancreatic fibrosis”, and In this variant, the features of its morphological manifestations are revealed to the greatest extent. It should be noted that this disease is quite common, as evidenced by indicators of the frequency of its occurrence. Thus, the ratio of 1: 2500 is determined only for newborns on the scale of European countries, which, in turn, indicates that at least four people have chances of getting cystic fibrosis for 10,000 newborns.

The defeat of cystic fibrosis occurs with the same frequency regardless of gender, that is, both boys and girls are equally affected. Given the fact that we are talking about a genetic disease, it should be borne in mind that patients are already born, and it is impossible to get cystic fibrosis. Meanwhile, the disease can last for a long time without manifestation of symptoms, therefore it is advisable to consider cystic fibrosis in adults. Its symptoms are diagnosed in this variant in about 4% of cases, although the overwhelming majority of this disease manifests itself during the first years of life. Given the fact that children are born already with him, it is often defined as hereditary cystic fibrosis or congenital cystic fibrosis.

Children become ill when they receive one mutant gene from each parent. If only one such gene is inherited, in this case its carrier state (“CF carriers”) is considered, in which pathologies corresponding to the disease are not diagnosed. Considering that the genes that each person has are paired, each of us, respectively, is the carrier of two copies of each of the genes (again, one gene from the mother, one from the father). Certain genes are deprived of the possibility of normal functioning in violation of their structure. When such a violation in the structure of the gene is changed. Therefore, in order for cystic fibrosis to develop (as, indeed, many other genetic diseases), it is necessary to obtain, as noted in the initial example, two altered genes. With parents carrying MV, any child of a couple can, with a 25% chance of getting altered genes from each of them.

In about 70% of the cases of the disease under consideration, it manifests itself until the child reaches the age of two. Due to the relatively recent introduction in medical practice of neonatal screening, the detection of cystic fibrosis has significantly decreased in time.

Features of the course of cystic fibrosis

Features of the pathogenesis (the mechanism that causes the occurrence of the disease) is not fully defined. Cystic fibrosis manifests itself due to secretion secretion by certain excretory glands, this secret has a high viscosity. Due to the difficulties arising in its evacuation, the ducts of the mucous glands, glandular organs, gastrointestinal tract and bronchial tree are blocked, and secondary changes occur in the lungs, pancreas, intestines and liver (in particular, enzymatic disorders and obturative processes). inflammatory nature). Due to the development of the inflammatory process in combination with fibrosis, a secondary form of organ failure develops. When studying the secretion of bronchial glands in an increased amount of phosphorus is detected, in addition, a decrease in the concentration of potassium and sodium, which is why some authors tend to assume that this is the reason due to which the mucus has a high viscosity.

The thick secret in cystic fibrosis is almost not excreted through the ducts corresponding to this function, which we have already noted above. In turn, such a delay causes the formation of small-sized cysts in the digestive and bronchopulmonary systems. Atrophy of glandular tissue, as well as progressive fibrosis, develops due to stagnant mucus. Fibrosis, in particular, implies a gradual replacement of gland tissue with connective tissue. In addition, early sclerotic changes develop in the organs. With secondary infection, the situation is complicated, because this is accompanied by the development of purulent inflammation in patients. Accordingly, the bronchopulmonary system in cystic fibrosis is affected due to the difficulties associated with the process of sputum discharge (which is directly related to its viscosity, as well as dysfunction of the ciliated epithelium), the development of mucostasis (which determines the stagnation of mucus), as well as chronic the nature of the inflammation.

As a basis for those changes that occur with the respiratory organs in the disease under consideration, a violation of the patency of the bronchioles and small bronchi is highlighted. Filled with purulent-mucous contents, the bronchial glands gradually increase in size, due to which their protrusion occurs and the subsequent overlap of the lumen of the bronchi. The formation of the drop-shaped and cylindrical bronchiectasis of the saccular type occurs, as well as the formation of emphysematous areas of the lung. The bronchi in this case are completely obstructed with sputum (i.e., complete blockage that violates the permeability).

The main role in the development of cystic fibrosis is assigned to a gene mutation that provokes disruption of the structure (along with functions) of the transmembrane regulator of cystic fibrosis (CFTR, a specific protein that participates in ensuring the transport of chlorine ions through the cell membrane; CFTR also determines the name for the gene, which encodes the specified protein ).

More details on the processes that are relevant in cystic fibrosis, you can get the following picture of the disease. Thus, viscous sputum, the accumulation of which occurs in the lungs, leads to the development of inflammatory processes here. This is also accompanied by violations of their blood supply and ventilation. As a result, patients have a cough that is painful in manifestation - one of the main and constant manifestations of the disease of interest to us. In the future, the lungs are free to become infected, and it mainly occurs due to the pyocyanic stick or staphylococcus, which is accompanied by a gradual development of destructive changes. The explanation for this is a violation of local immunity, in which the level of interferon, antibodies, activity of phagocytes decreases, and also the condition of the epithelium of the bronchi is subject to change.

Patients often begin to develop diseases such as bronchitis and pneumonia, moreover, their appearance has a recurring nature, and in some cases such complications are observed in patients already during the first months of their life. It should be noted that the infection provides an even higher viscosity of sputum, which means that the condition that develops in this case determines a significant risk to the lives of patients, because respiratory failure causes the death of a significant part of them (this applies to both children and adults).

The lack of pancreatic enzymes causes cystic fibrosis patients to face problems associated with digestion of food (this, in turn, determines for them the lag in weight, which is important even with increased appetite). Bile stasis becomes the cause of liver cirrhosis in some patients or a factor causing the formation of stones in the gallbladder.

If you try to figuratively determine how patients with cystic fibrosis live, you can invite readers to imagine the need for a permanent stay in a gas mask. In a gas mask, which can not be removed, moreover, in a gas mask, which day after day is doing worse and worse with the function that is predetermined for it. Patients with cystic fibrosis are in a similar position - their lungs only manage their functions by 25%.

Forms of cystic fibrosis

The disease we are considering is characterized by many different manifestations that are relevant for it, all of which are determined by the degree of severity of pathological changes, the relevance of complications, and the age of the patient. Forms of cystic fibrosis can be the following:

• mainly pulmonary (bronchopulmonary or respiratory);
• mainly intestinal;
• mixed (in this case, the respiratory organs and the gastrointestinal tract should be affected simultaneously);
• meconium intestinal obstruction;
• erased and atypical variants of the manifestations of the disease.

This division of cystic fibrosis into forms is conditional, because the indication of predominantly pulmonary lesion is compared with actual disorders of the digestive organs, while the intestinal lesion is accompanied by the development of corresponding changes in the bronchopulmonary system. It is important to note that the disease is characterized by a variety of its clinical manifestations in each individual case of its occurrence. Many organs are affected, but it is the lungs, intestines, pancreas and liver that suffer the most. Meanwhile, one of the most important features of cystic fibrosis is that the mental abilities of patients are in no way affected.

Erased and atypical forms of the disease can be identified as a result of examination for the relevance of chronic sinusitis in a child. At an older age, cystic fibrosis can be detected with infertility relevant to men. Infertility in men, regardless of the form of the disease, is a concomitant pathology. It provokes azoospermia (absence of spermatozoa in seminal fluid), azoospermia, in turn, develops due to atrophy of the spermatic cord (i.e., due to its decrease in size or due to damage to its tissues, due to which its characteristic functions), because of its congenital absence or as a result of obstruction (i.e., impaired patency). These disorders can also occur in those patients who are only carriers of the cystic fibrosis gene.

In women, cystic fibrosis is manifested in a decrease in fertility (the ability to reproduce offspring), this is due to the increased viscosity that is relevant to the discharge of the uterine cervical canal, thereby complicating the possibility of sperm migration.

Cystic fibrosis: symptoms

In particular, in this case we will consider pulmonary (or respiratory) form diseases. The first symptoms of cystic fibrosis are manifested in the form of patient lethargy and generalized skin pallor. In addition, often even an increased appetite makes it impossible to gain weight (the same applies to normal appetite). Severe course is accompanied in some cases by the appearance of coughing in patients already during the first days of their life, with the passage of time the cough begins to intensify, due to which, by its nature, it resembles a cough with whooping cough. Adherence of sputum becomes a companion of cough, it is quite thick, and if the bacterial flora accumulates on it (the indicated staphylococcus, etc.), it gradually becomes purulent-mucous.

Due to the high degree of viscosity of the bronchial secretions, the mucostasis already noted above develops with simultaneous obstruction of the bronchioles and bronchi, which, in turn, becomes a factor contributing to the development of emphysema. If there is a complete obstruction of the bronchi, then atelectasis begins to form (which determines the collapse of either the lung completely or its individual lobes). Cystic fibrosis in young children is accompanied by rapid involvement in the pathological process of the lung parenchyma (located in the walls of the lungs air sacs (ie, alveoli), through which gas exchange between blood and atmospheric air is ensured). In this case, a prolonged and severe form of pneumonia develops, and its characteristic is a predisposition to abscess, which implies the development of purulent inflammation of tissues, in which their subsequent melting leads to the formation of purulent cavities. Actual damage to the lungs in any case is bilateral.

An objective examination determines the presence of wheezing; when tapped during such an inspection, the sound is determined to be boxed.

In some cases, patients develop toxemia (a painful condition in its manifestation, caused by exposure of certain exogenous factors to the body (for example, microbial toxins)) and even symptoms associated with shock. In particular, shock refers to a pathological process that arises as a response to extreme irritation and is accompanied by a progressive type of impairment. They, in turn, affect the most important functions of the nervous system, as well as the respiratory system, circulatory system, metabolic processes, etc. In other words, the shock that can develop, acts as a breakdown of a number of compensatory reactions of the body (i.e. its adaptive reactions usually occurring as a response to tissue damage during the subsequent performance of lost functions by intact tissues), manifested as a response to damage.

Returning to the connection of toxicosis and shock with cystic fibrosis, we note that these conditions can appear on the background of certain diseases, which are accompanied by high temperatures or in hot weather conditions, in which there is a significant loss of chlorine and sodium from the body afterwards.

Pneumonia, actual for patients, subsequently becomes chronic, the state is combined with the development of the previously noted pneumosclerosis   (pathological process of proliferation in the lungs of the connective tissue against the background of an actual disease for the patient, as a result of which the affected areas lose their inherent elasticity, acquiring at the same time violations related to their gas exchange function) and bronchiectasis   (in this case we are talking about the pathological expansion of the bronchi, in which their walls and structure are subject to change). The subsequent development of pneumonia is also accompanied by the appearance of symptoms of the so-called “pulmonary heart” (when, due to the nature of the lesions of the lungs and bronchi, an increase in arterial pressure in the small blood circulation led to pathological changes in the form of expansion and enlargement of the departments located on the right side of the heart). In addition, heart and pulmonary insufficiency develops.

The clinical picture, again, determines the characteristic changes in the appearance of patients. So, their skin has an earthy hue, cyanosis of a general type and acrocyanosis appear (i.e., cyanosis of the mucous membranes and skin, cyanosis of the extremities). Dyspnea also appears at rest, the chest becomes barrel-shaped, the sternum is deformed in a wedge-shaped manner, the terminal phalanges of the fingers are also deformed, resembling as a result drum sticks ("Hippocratic fingers"). Motor activity decreases, body weight decreases, appetite decreases.

Pneumothorax and pyopneumothorax, as well as pulmonary hemorrhage are considered as rare forms of cystic fibrosis complications. Pneumothorax in particular determines the state in which gases or air accumulate in the pleural cavity, pyopneumothorax determines the state of simultaneous accumulation of pus in the area with gases or air, and pulmonary hemorrhage, respectively, determines the outflow of blood originating from bronchial or pulmonary vessels, due to which blood begins to secrete from the respiratory tract.

A more favorable form of the course of cystic fibrosis, in which its manifestation (the development of pronounced forms of clinical manifestations, occurring after an erased or asymptomatic course of the disease) occurs when it reaches an older age, bronchopulmonary pathology manifests itself with a slow progression of deforming bronchitis in combination with moderate severity of pneumosclerosis.

The long course of cystic fibrosis is accompanied by the adherence of the pathologies of the nasopharyngeal area to it, which manifests itself in the form of nasal polyps, sinusitis, chronic tonsillitis and adenoid vegetations.

Intestinal cystic fibrosis: symptoms

In this case, respectively, mainly intestinal form of the course of cystic fibrosis is considered. Manifestations of this form are caused by secretory insufficiency relevant for the disease, noted in the gastrointestinal tract. Especially pronounced is the nature of such a violation when transferring a child to complementary foods or artificial feeding. This is accompanied by insufficient cleavage and subsequent absorption of fats and proteins, the lack of splitting and absorption of carbohydrates occurs to a lesser extent.

There is a predominance of putrefactive processes in the intestine, which determines in general the decomposition of organic nitrogen-containing compounds (amino acids, proteins) in it during enzymatic hydrolysis, which, in turn, occurs under the influence of ammonifying microorganisms. As a result of this decomposition, final products with a high degree of toxicity are formed (hydrogen sulfide, ammonia, primary and secondary amines, etc.). The symptomatology accompanying putrefactive processes is shown in the form of accumulation of gases at the expense of which, in turn, abdominal distention is noted at patients.

Defecation (stool, feces) in patients becomes more frequent, and such a violation as polyfecalia, which determines an abnormal increase in the frequency of defecation, is also relevant, which may indicate an increase in the age limit by half (8 times increase of this frequency is not excluded).

From the moment of training a child with cystic fibrosis to the pot, he often has such a pathology as prolapse of the rectum, which occurs in about 10-20% of cases. By rectal prolapse means a partial or complete form of rectal inversion out through the anus.

Patients also have complaints about the appearance of dry mouth, which occurs due to an increase in the viscosity of saliva. Chewing dry food is difficult, in general, the process of food absorption requires the simultaneous intake of liquid in significant amounts. During the first months of the onset of the disease, the appetite in patients, as already noted, is normal, and in some cases increased. However, the subsequent development of disorders associated with the processes of digestion leads to the rapid development of malnutrition - eating disorders against the background of such disorders, as a result of which patients subsequently experience a deficiency in body weight in varying degrees of manifestation. Polyhypovitaminosis also joins this state, which defines a combined form of insufficiency of providing the body with vitamins of various groups.

Muscle tone is reduced, as well as tissue turgor (normally this is a stressful condition of the skin, due to which it looks elastic and resilient). In addition, patients experience abdominal pain of various types of manifestations. So, when flatulence (gas) appear pain cramping character, followed by attacks of cough - muscle pain, with actual right ventricular failure - pain in the right hypochondrium.

If there are pains in the epigastric region, this indicates a lack of neutralization in the duodenum of the gastric juice in the presence of a reduced secretion of bicarbonate by the pancreas. It should be noted that the violation of neutralization in this case of gastric juice can provoke the development of ulcer disease in patients with 12 duodenal ulcer, the development of the ulcerative process in the small intestine is also considered an option.

The secondary form of disaccharidase deficiency, the secondary form of pyelonephritis, intestinal obstruction, as well as urolithiasis, which develops as a result of metabolic disorders, can be a complication of the form of cystic fibrosis in our study. A latent form of diabetes mellitus may also develop, which occurs as a result of an insular apparatus in the pancreas. Due to a violation of protein metabolism, hypoproteinemia develops, with the result that some cases of its manifestation lead to the development of edema syndrome in infants.

An enlarged liver (hepatomegaly) occurs due to the development of cholestasis in patients (a disorder in which the duodenum receives bile in smaller volumes, which, in turn, is due to disorders associated with its formation, elimination and excretion). With the development of patients with biliary cirrhosis, the symptoms of cystic fibrosis are complemented by manifestations in the form of jaundice and pruritus, portal hypertension (which implies the relevance of such a syndrome in which pressure increases within the portal vein system).

Portal hypertension, in turn, is accompanied by abdominal distention and increase in size, the appearance of a feeling of heaviness in the right hypochondrium. If patients have varicose veins, the stool may change (it becomes black). Due to the fact that the liver cannot normally cope with the blood-purifying function, some of the toxins contained in the blood are sent to the brain. Against this background, damage occurs to his nerve cells, which leads to the development of encephalopathy. Manifestation of this stage of portal hypertension on the background of cirrhosis in cystic fibrosis becomes the confusion of patients, forgetfulness. Due to the fact that the spleen stagnates blood, there is a gradual increase in size. Increased pressure in the portal system (against the background of portal hypertension) leads to the accumulation of water in the abdominal cavity, and this becomes the cause of the development of ascites in patients. Ascites is also defined as dropsy, which also points to the essence of pathology, it consists in the accumulation of fluid, it concentrates in particular in the abdominal cavity, and the volume of such accumulation can reach 25 liters.

In some cases, cholestasis does not accompany the development of cirrhosis in cystic fibrosis.

Cystic Fibrosis: Mixed Form

The mixed form of the disease determines the disorders that are relevant both for its pulmonary form and for the intestinal form, which we have examined above. As a rule, in the period of the first weeks from the moment of birth, patients are diagnosed with severe forms of repeated bronchitis and pneumonia. They are characterized by a prolonged course, as well as the appearance of persistent cough. There are also sharp forms of eating disorders and intestinal syndrome (it manifests itself in the form of liquid stool and abdominal distention; feces do not lose their fecal character, however they have a liquid form, are abundant, the color changes to yellow-green or gray-green; in frequency stool appears standard, from 3 to 5 times per day).

The clinic of manifestation of cystic fibrosis varies in each specific case, therefore, respectively, the variants of the manifestation of the disease and the characteristics of its course differ. In addition, there is a dependence of the severity of the disease under consideration with the timing of the first symptoms. So, the younger the patient at the time of the manifestation of cystic fibrosis (that is, the development of pronounced manifestations of cystic fibrosis after going beyond the erased version of its course or the course of asymptomatic), the more unfavorable for him the prognosis. Due to this difference in the course of the disease in various cases, the severity of this course is determined based on the degree and nature of the lesion in patients with bronchopulmonary system, for which the division into the following stages is used:

• I stage. It is characterized by non-permanent functional changes, combined with the appearance of dry cough in patients without the addition of sputum. Dyspnea manifests itself either in a minor form or in a moderate form, in both cases, its occurrence is accompanied by previous physical exertion. The duration of this stage in patients is often about ten years.
• Stage II   At this stage, the chronic form of bronchitis develops, in which the cough manifests itself with sputum. Dyspnea manifests itself in a moderate form, its intensification is noted during exertion. Within this stage, the fingers also deform (their terminal phalanges). In addition, there is the presence of "crackling" and wet wheezing when listening, breathing is characterized by stiffness. The duration of this stage can be on the order of two to fifteen years.
• Stage III.   Here, a stage is already being considered, within which the progression of the bronchopulmonary process is observed in combination with the development of a number of complications. In the lungs, the formation of zones of limited pneumosclerosis with diffuse pulmonary fibrosis occurs, bronchiectasis and cysts are also formed. Patients are diagnosed with a severe form of respiratory failure, which is combined with heart failure (the previously noted “pulmonary heart”). The duration of the disease at this stage is about three to five years.
• Stage IV.   As part of the course of this stage, patients develop a severe form of cardio-respiratory failure. The duration of this stage is about several months, its completion determines the lethal outcome for the patient.

Meconium bowel obstruction

This form of cystic fibrosis is also defined as intestinal meconium ileus. Its name defines the essence of the current state of patients with cystic fibrosis, respectively, meconium intestinal obstruction indicates intestinal obstruction with the original feces, meconium. Due to the increased viscosity of meconium, which is caused by the disease of interest to us, cystic fibrosis, this blockage occurs.

This pathology manifests itself in the period of the first days of a child’s life. Determine meconium obstruction can be due to the fact that, in fact, does not depart meconium. Further, by the second day of life, the child’s anxiety is noted, frequent regurgitations occur, vomiting occurs, and there is an admixture of bile. This also includes the swelling of a child's abdomen, a noticeable vascular pattern appears on it, and tissue turgor decreases. In general, the skin becomes pale and dry. The previous anxiety of the child is replaced by the state of adynamia (a condition characterized by a sharp decline in strength, the development of muscle weakness, a decrease or even cessation of any physical activity in a patient). Toxicosis in combination with exsiccosis also increases (otherwise, dehydration; the pathological state of loss of significant volumes of salts and body fluids).

Meconium obstruction develops due to the absence of a specific enzyme (trypsin), as a result of which meconium accumulates in the loops of the small intestine, becoming viscous and dense. The discharge of the first feces in a newborn occurs mainly during the first day from the moment of birth, less often it occurs during the second day. If the child is sick, then, as is already clear, meconium does not stand out.

An objective examination of the child reveals that he has tachycardia (rapid heartbeat) and shortness of breath. Treatment of this condition of the newborn, as a rule, is made through surgical intervention. It should be noted that the meconium obstruction is in no way connected with the severity of the patient with cystic fibrosis. Only in rare cases, cystic fibrosis itself cannot be a confirmed diagnosis by conducting laboratory and clinical studies.

Separately, we note that this condition can provoke serious complications, namely, intestinal perforation in combination with the development of meconium peritonitis in a child. Also often occurs joining 3-4 days of life of pneumonia, it is subsequently characterized by its own protracted nature of the flow. The development of intestinal obstruction may also occur in older patients.

Diagnostics

The diagnosis of cystic fibrosis can be made after the results of the following studies:

• conducting a general study of the early manifestations of this disease, the study of the hereditary factor in its possible occurrence;
• general tests (urine, blood);
• microbiological examination (sputum);
• coprogram (feces are examined for the presence of fat and its content, and the presence / content of starch, muscle fibers and fiber is determined);
• bronchoscopy (allows you to determine the presence of sputum in the bronchi viscous and thick consistency);
• bronchography (determines the relevance of bronchial defects, as well as the presence of bronchiectasis in them);
• x-ray (the bronchi and lungs are examined for sclerotic and infiltrative changes);
• spirometry (it makes it possible to determine the actual functional state in which the lungs are staying, this is done by measuring the speed and volume of air exhaled by the patient);
• molecular genetic research (analysis of DNA or blood samples is carried out for the subsequent identification of mutations in the gene causing cystic fibrosis in them);
• sweat test (sweat electrolytes are subject to research; this analysis is the most informative in terms of identifying the disease of interest, it reveals the content of sodium and chlorine ions in the sweat);
• prenatal diagnosis (implies a survey of newborn babies for the presence of congenital and genetic diseases, including cystic fibrosis).

Treatment

There is currently no effective treatment for the disease we are considering; therapy for this disease is symptomatic. In particular, such therapy is aimed at restoring the functions of the gastrointestinal tract and the respiratory system, it is carried out throughout the patient's life. Conducting intensive therapy is required for actual respiratory failure within the framework of the II-III degrees of the disease, for "pulmonary heart", destruction of the lungs and hemoptysis.

The predominance of intestinal forms of the disease in patients requires a diet with a high content of proteins (eggs, fish, cottage cheese, meat), as well as with a restriction in the diet of fats and carbohydrates (only easily digestible are acceptable). The exception is subject to coarse fiber, lactose deficiency implies the exclusion of milk. Vitamins, digestive enzymes are prescribed (the appointment is made individually, the severity of the lesion is the determining factor in the appointment of a specific dosage). The effectiveness of the prescribed treatment is determined on the basis of the state of the stool (more precisely, its normalization), the normalization of weight, the disappearance of pain, lack of neutral fat in the feces.

Pulmonary form of cystic fibrosis in the treatment is aimed at reducing the degree of viscosity of sputum in patients with simultaneous restoration of bronchial patency. Also an important measure in the treatment is the suppression of the infectious-inflammatory form of the process. Patients are prescribed mucolytics (inhalation, aerosols), and inhalation enzyme preparations may also be prescribed. Simultaneously, physiotherapy exercises, postural drainage and vibration massage for the chest are used.

The urgency of acute manifestations characteristic of bronchitis and pneumonia requires antibacterial therapy. Metabolics are prescribed to improve myocardial nutrition. Treatment of azoospermia in men with cystic fibrosis through the use of conservative methods, which in particular implies hormone therapy, determines the absolute lack of effectiveness.

A separate important point is coughing, through which sputum discharge is ensured. Its accumulation increases the likelihood of infection, coughing is the main way to clean the lungs. Accordingly, the child should be taught to cough to achieve this effect, he should not hesitate to do it during the day or during physiotherapy procedures.

As for the prognosis, it is determined on the basis of the severity of the course of the disease, which is especially important in case of pulmonary syndrome, as well as the time of the first symptoms in the patient, the timeliness of diagnosis and the adequacy of the measures used therapy. Lethal outcomes are quite common, especially during the first year of life in sick children. As we have already noted, the earlier the disease is diagnosed and the appropriate therapy in its address has been initiated, the more favorable its course is, respectively. The average life expectancy in Russia at the moment is within 30 years, while in the conditions of developed countries this figure is an order of magnitude higher - 40 years.

In cystic fibrosis, patients are seen by a pulmonologist and also by the attending pediatrician (therapist). Parents and relatives are obliged to learn the actions used for vibratory massage of the patient, as well as the basic rules necessary to comply with to care for him.