Pulmonary cystic fibrosis. Symptoms in the defeat of the bronchopulmonary system

The date: 20.04.2019

Cystic fibrosis (cystic fibrosis) - genetic hereditary disease, predominantly affecting the lungs and digestive tract.

The cause of the disease is a violation of the formation of a mucous secretion by all internal organs - the lungs, intestines, etc.

What is cystic fibrosis

The main cause of the disease is a malfunction epithelial cells that line the sweat glands, mucous membranes and tissues of the lungs, liver, pancreas, digestive tract and urinary system.

Inheritance of the damaged gene leads to the fact that epithelial cells produce a defective protein-regulator of transmembrane conductance. Due to the malfunction of this protein, epithelial cells cannot regulate the transport of chloride ions across their membrane. The most important balance of salts and water inside and outside the cell is disturbed, which is necessary for the production of fluid (the secret of epithelial cells - mucus) inside the lungs, pancreas and excretory ducts of other organs. Mucus becomes thick, viscous, unable to move.
Usually the mucus inner surface respiratory tract helps fight pathogens by removing them from the lungs. Thick mucus in cystic fibrosis, on the contrary, lingers along with the microorganisms in it, and the lungs quickly become infected.
Viscous mucus blocks the excretory ducts of the pancreas, through which enzymes essential for the digestion of food enter the intestines. In this case, many nutrients, especially fats, are not absorbed in the intestines and do not enter the body.

That is why children with cystic fibrosis gain weight very poorly, despite good nutrition and good appetite.

Manifestations of cystic fibrosis

Early diagnosis of cystic fibrosis is possible. However, about 15% of cases are still found in adolescence or older.

Signs of cystic fibrosis in infants

Meconium intestinal obstruction . Meconium is the original feces of a dark, almost black color, states from particles of amniotic fluid digested during fetal development. Normally, a stool in a newborn appears on the 1-2 day of life. In cystic fibrosis, meconium becomes too thick and viscous to pass through the intestines, and eventually completely blocks its lumen. Despite regular feeding, the newborn has no stool in the first days of life, and the child is restless, swollen, tense and painful to the touch.
Poor weight gain with adequate nutrition. This symptom is most common in newborns. Thick mucus blocks the pancreatic ducts, preventing digestive enzymes get into the intestines and participate in the breakdown of nutrients, primarily fats and proteins. Vital nutrients are not absorbed in the intestines, do not enter the body, thereby slowing down growth and weight gain. The risk of a lack of fat-soluble vitamins (K, D, A, E) in the body increases.
"Salty Skin". Pathological changes in the epithelium of the sweat glands lead to their incorrect work and the release of altered, more salty sweat. Kissing their children, parents feel an unusual "salinity" of the skin.

Involvement respiratory system occurs almost always and is the main problem of patients with cystic fibrosis.

The main symptoms of the respiratory system

Recurrent infections, frequently recurring pneumonia. Mucus stagnant in the bronchopulmonary system is a favorable environment for the development of pathogens. Children often suffer from bronchitis, pneumonia, feel constant weakness.
Frequent paroxysmal cough without sputum discharge, bronchial dilatation with the accumulation of infected contents in them (bronchiectasis).
Feeling of shortness of breath, lack of air, periodic bronchospasm.

To one degree or another, these signs are present in 95% of patients and significantly impair the quality of life, requiring constant antibiotic therapy with exacerbations of bronchitis and pneumonia.

Symptoms from the digestive tract

Dry mouth, no or very little saliva. The reason is involvement in the process salivary glands and decreased secretion of saliva. mucous membrane oral cavity becomes dry, easily injured, often cracks and bleeds.
Frequent prolonged constipation caused by a violation of the movement of food through the intestines due to the lack of a secret that moisturizes the intestinal wall.
A large amount of undigested fat in the intestinal contents leads to increased gas formation, bloating. The chair is frothy, interspersed with fat and an unpleasant odor.
Feeling nauseous, loss of appetite.
Violation of the breakdown, absorption of proteins and fats, a constant lack of nutrients ultimately leads to malnutrition, low weight growth and, as a result, to a delay in the psychomotor and physical development of the child.

Diagnosis of cystic fibrosis

Exists DNA genetic analysis when a damaged gene responsible for the appearance of a damaged protein-regulator of transmembrane conductivity is isolated from a blood sample.

It allows for 100% diagnose cystic fibrosis.

However, there are simpler indirect diagnostic methods:

Determining the amount of immunoreactive trypsin is a diagnostic screening method that all newborns undergo in the first days of life in many countries. The method has good reliability, with a positive result, it is necessary to repeat the test at 3-4 weeks of age.
Sweat test with pilocarpine. Pilocarpine - a substance that promotes sweating, is injected into the skin by iontophoresis. The exuded sweat is then collected and analyzed. A large amount of chloride in the secretion of the sweat glands almost certainly indicates in favor of cystic fibrosis.
Additional diagnostic methods that determine the degree of involvement of one or another organ: X-ray of the lungs, sputum analysis and culture, determination of nutritional (nutrient) status, stool analysis, coprogram, spirography (assessment of respiratory system reserves).

Treatment and proper lifestyle for cystic fibrosis

Nutrition Features

The diet should be rich in proteins and high in calories, since most of the nutrients will be lost. Children with cystic fibrosis, in order to fill all their needs, need to actually eat 2 times more.
Reception of vitamin and mineral complexes. Be sure to use fat-soluble vitamins (A, E, D, K), since their absorption in the intestine along with fats does not occur. A lack of vitamin K leads to poor blood clotting, vitamin D - to softening of the bones and pathology of the skeletal system as a whole.
Continuous intake of enzyme preparations. Deficiency of pancreatic enzymes must be at least partially replenished. Therefore, before each meal, for its normal digestion, you need to take tablet preparations of pancreatic enzymes.

Fighting lung problems

Taking antibiotics to fight pathogenic bacteria. It can be both tablets and intramuscular or intravenous injections. Due to the constant stagnation and infection of the sputum, antibiotic therapy in patients with cystic fibrosis is frequent, sometimes almost constant. It depends on the condition of the lungs and the course of the infectious process.
The use of bronchodilator inhalers is relevant for frequent seizures shortness of breath and bronchial obstruction (blocking of the lumen of the bronchus).
Outside of signs of a pronounced infectious process, doctors recommend performing a flu vaccination. In the midst of an epidemic, vaccination will help protect against acute respiratory diseases.

Regular wet cleaning in the apartment, minimizing the child's contact with dust, dirt, household chemicals, fire smoke, tobacco smoke and other irritants Airways factors.
Plentiful drink. This recommendation is especially relevant for young children, as well as for diarrhea, in hot weather or during excessive physical activity.
Moderate physical activity, swimming, light running in the fresh air, any restorative activities.
Clearing the bronchi and lungs from viscous sputum using percussion (tapping) and postural drainage methods. The doctor should explain the technique for performing these simple manipulations. The essence of the methods is to position the child so that the head end is slightly lower, and to consistently tap all zones above the lungs with your fingers. Sputum after such exercises departs much better.

If your child is diagnosed with cystic fibrosis, do not despair. There are a huge number of people in the world with the same problem, they unite in online communities, share useful information, support each other.

Cystic fibrosis is a complex genetic disease that, until recently, was considered incurable… In other respects, it remains so today. The main reason is the ignorance of people about the existing disease and its manifestations. The question remains: “What are the symptoms and correct diagnosis ailment?" The issue is subject to detailed study.

Features of the disease

Cystic fibrosis (cystic fibrosis) is a dangerous hereditary disease caused by a gene mutation that affects all the mucous organs of a person: the liver, nasopharynx, intestines and others. The danger of the disease lies in the fact that the mucus secreted by these organs is too thick and thus affects them.

The disease is considered one of the most common among diseases that are inherited. Every 30th inhabitant of the Earth has a mutational gene, a potential child of such a parent will inherit this disease in 20%. Despite the danger and complexity of the disease, until 1989 of the twentieth century, no one dealt with it and did not study it, there was no diagnosis of the disease and methods of treatment, as a result, most patients did not even live up to 5 years.

In 1946, scientists identified the causal nature of the disease, but it took many years to confirm the fact. Only in 1989 was the gene leading to the disease and the type of its mutation identified. Thus, after the 90s, there was a chance to determine the causes of the disease and a chance to cure it. On the this moment more than 1500 types of mutations and deviations in the state of this gene that causes cystic fibrosis are known.

Depending on the type, mutations are divided into: heavy, soft and sparing. Accordingly, the degree of the disease depends on the type. Previously, patients with severe forms died in childhood, not even having a chance for a correct diagnosis; after 1990, the situation acquired positive trends.

At the moment, the average life expectancy of patients in developed countries is more than 50 years, in the post-Soviet territory of the USSR more than 30 years. Mortality among those born with a similar diagnosis has also declined rapidly.

Cystic fibrosis is not a contagious disease!

Patients diagnosed with cystic fibrosis are not contagious, have full characteristics, do not have intellectual and mental abnormalities, and there are no physical disabilities, many of them are gifted and capable individuals. General feature patients is the ability to show calmness and concentration when doing a specific thing, mastering the profession of translators, accountants, writers, artists.

In a situation where one of the parents is sick and the other is healthy, their child has a 100% chance of being fully healthy and not inheriting the mutating gene.

Factors contributing to development

Cystic fibrosis is a fairly common disease, which is confirmed by the statistics of its occurrence. The ratio in the statistics of newborns is 2500:1, therefore, the disease accompanies four children per 10,000 born.

Cystic fibrosis is a genetic disease that is inherited!

The disease does not have a sexual characteristic, that is, both newborn girls and boys get sick with it. Considering genetic cause it is impossible to catch the disease, you can only be born with it.

The danger is that cystic fibrosis long time does not manifest itself in symptoms. Only in 5% it manifests itself in the first, childhood years of life, in the rest of the case it is completely asymptomatic.

In newborns, the lungs have absolutely normal characteristics, respiratory failure can manifest itself and develop at any time. Bronchial mucus begins to block the airway, which leads to inflammation. The progress of the disease leads to chronic bronchitis and pneumonia, since the lungs are only 30% functional, the blood is not supplied with oxygen to a sufficient extent.

20% of newborns with a similar diagnosis have meconium ileus - a disease of intestinal obstruction, feces acquire a viscous consistency and more slowly pass through the intestines, often blocking it. This process can lead to volvulus or intestinal obstruction. In 25% of infants, if left untreated, rectal prolapse occurs.

In the process of progression, the disease leads to the appearance in children severe cough, inflammation of the respiratory tract, vomiting, lack of sleep. Gradually, the chest takes on the shape of the sides, the tips of the fingers thicken, and the skin turns blue. In the sinuses, growths form, as a result of which the nostrils are filled with mucus.

Clinical picture

The causes of the gene mutation leading to the disease have not yet been determined. The manifestation of the disease begins with an increased secretion of viscous mucus from a particular mucous organ, as a result, the ducts are clogged and inflammatory processes begin to occur in the organ. In other words, mucus forms cysts (fibers) on the surface of the affected organ.

In addition to these changes in the tissues of the organs, necrosis of tissues begins to occur, leading to suppuration and bleeding, this picture is called a secondary infection of the patient. Due to atrophic symptoms, sputum accumulates in the lungs, which cannot come out due to the accumulation of mucus and a regular inflammatory process.

As a result of atrophic processes and constant inflammation, the lungs begin to deform, and the chest becomes elongated and arched. In addition, as a result of blockage of the lung-bronchial system with mucus, the patient loses the ability to fully breathe, experiencing regular suffocation and dizziness. As a result, many people with cystic fibrosis die of asphyxiation or pneumonia.

The consequences of the manifestation of cystic fibrosis

Sexual development in adolescence slows down, decreases physical activity. The disease progression of adolescents and adults have the same characteristics: persistent pneumonia, bronchitis, coughing up blood, heart failure. Regular inflammation in the lungs leads to tissue necrosis and destruction. Death results from pulmonary heart failure.

5% of people with cystic fibrosis develop diabetes as a result of damage to the pancreas and its inability to produce its own insulin. Blockage of the bile ducts by mucus causes inflammation in the liver and leads to cirrhosis.

In patients, as a rule, reproductive ability is impaired. The body of almost 100% of men does not produce sperm, in women the cervix is filled with mucus, which leads to the impossibility of fertilization. In addition, women during pregnancy are defeated possible deviations and complications.

People with a corresponding disease, during a heat wave or when high temperature tend to sweat profusely, as a result of the loss of the liquid-salt component of the body, severe dehydration occurs.

Forms of the disease

Malaise can be various manifestations characteristic of cystic fibrosis, however, they all have a specific form of severity, pathology, and complications.

The following forms of cystic fibrosis have been identified:

pulmonary;
intestinal;
pulmonary-intestinal;
intestinal obstruction in newborns;
uncharacteristic symptoms of the disease.

The listed types are very conditional, since damage to the organs of one system leads to inflammation of the organs of another, for example, problems of the respiratory system subsequently affect the digestive organs and vice versa.

Clinical manifestations of the disease are often purely individual and each patient manifests itself in its own way, depending on gender, age, and the state of immunity.

Diagnostics and danger

The following medical examinations will help to identify the disease and make the correct diagnosis:

assessment of the health status of a particular organ in childhood;
diagnosis of heredity;
sputum examination;
fecal analysis;
bronchography;
x-ray of the pulmonary-bronchial system;
a study of the amount of air that the patient is able to inhale and the time for which he does this;
gene analysis of DNA;
test analysis of sweat gland secretions;
prenatal study of newborns.

Early diagnosis of the disease can prevent the development of the disease and prolong life!

Treatment

For any suspicious symptoms and manifestations in a child, of the above, you should immediately contact a pediatrician, a pulmonologist, a specialist in respiratory diseases, will also be able to clarify the picture.

There is no specific cure for cystic fibrosis, it all depends on the symptoms. Basically, the treatment consists in maintaining and restoring the pulmonary-bronchial system, as well as the organs of the gastrointestinal tract, which is carried out for the patient all his life.

Patients with abnormalities in the gastrointestinal tract are advised to follow a strict diet, limit the use of fatty and protein and carbohydrate foods, and exclude the use of milk in pure form. Recommended vitamins, food enzymes. Rehabilitation of the patient is determined by the state of the chair, appetite, weight, pain manifestations.

Cystic fibrosis is one of the most insidious genetic diseases. Partly because it is almost impossible to predict its appearance. Sick children are most often born to perfectly healthy parents. Even 50 years ago, doctors could only guess about the causes of this disease. Today, medicine has advanced noticeably and knows how to help such people.

What is cystic fibrosis?

In cystic fibrosis, glandular cells various organs produce a large number of thick, hard-to-remove secret.

Cystic fibrosis is a disease in which the work of the secretory organs (or, in other words, glands) is initially disrupted. Following them, other systems of the body begin to suffer.

At healthy person various glands produce digestive juices, mucus, sweat, tears, which are discharged through special ducts to the surface of the body or enter internal organs(bronchi, intestines, etc.). All these secretions (secrets) perform vital functions. So, for example, a tear moisturizes the cornea, and bronchopulmonary mucus removes dust and bacteria from the respiratory tract.

In a patient with cystic fibrosis, secrets are also produced, but much more viscous and thick, so they hardly move through the ducts and canals, “stick together” and form plugs. Most often, such plugs form in the respiratory tract and gastrointestinal tract, as a result of which patients have problems with breathing and digestion.

Causes of the disease

Cystic fibrosis is inherited. According to statistics, damaged genes that can cause disease are present in the body of 5% of Europeans.

However, their presence does not mean illness. For cystic fibrosis to develop, a child must inherit the "bad" genes from both parents at once. The probability of such an outcome in a family where mom and dad are carriers of mutations is 25%.

At the same time, it is necessary to understand that the parents themselves in most cases are healthy people. And in their body there are not only "broken", but also normal genes. It is impossible to control which of them the child will get in the process of conception.

The hidden presence of cystic fibrosis genes can only be detected with the help of special genetic tests. And even then not always. DNA diagnostics is aimed at identifying the 40 most common mutations, although in reality there are about 2000 of them.

In no way is the child's illness related to bad habits parents, stress or environmental situation. Any person can be a carrier of pathology.

Symptoms

The clinical picture of cystic fibrosis is very diverse. Much depends on what specific mutation the patient got, therefore, the age when the first signs of the disease begin to appear, and these signs themselves different people may vary. In 70% of patients, the disease is detected during the first three years of life.

Intestinal obstruction may be detected in sick children immediately after birth. It develops due to blockage of the intestinal canal with too thick original feces - meconium. This condition occurs in 15% of children with cystic fibrosis and is called meconium ileus.

Later, other symptoms from the gastrointestinal tract appear. Due to the poor functioning of the pancreas, the body of newborns does not digest breast milk fats well, so their stools are oily, frequent, and fetid. Such children have a large appetite, while gaining weight very poorly. For some, due to increased gas formation the abdomen is strongly swollen.

An indicative symptom of cystic fibrosis in the first year of life becomes. The glands of the bronchopulmonary system in sick children secrete a lot of sticky mucus, which clogs the bronchi and their smaller branches - bronchioles. This process interferes with normal breathing. In the mucous plugs, pathogenic microbes begin to multiply - staphylococci, Pseudomonas aeruginosa and Haemophilus influenzae, pneumococci. The patient suffers from frequent and.

Gradually added shortness of breath, weakness, deformed rib cage(she becomes barrel-shaped). In advanced stages, patients suffer from severe lung failure. Emphysema and pneumosclerosis may develop.

Depending on which symptoms prevail in the patient, it is customary to speak of intestinal or pulmonary form disease, although in most cases doctors have to deal with a mixed (gastrointestinal) form of the disease. According to different authors, it is diagnosed in 60-70% of patients.

Not less than important feature cystic fibrosis is a change in the composition of sweat fluid. Compared with the norm, the amount of sodium in it increases several times. Therefore, if the patient begins to sweat intensely (in hot weather, during physical activity), he may develop salt deficiency, which manifests itself:

convulsions
pain in the abdomen
lethargy,
rise in temperature,
dehydration.

It should be noted that all the symptoms described above are manifestations of the most common and severe mutations. There are also lighter ("erased") varieties of the disease. They run like chronic pancreatitis or .

Diagnostics

Even in the maternity hospital, blood is taken from the newborn's heel and the level of immunoreactive trypsin is determined in it. If it exceeds normal values, the child is specifically examined for cystic fibrosis.

Earlier diagnosis cystic fibrosis was performed only in the presence of signs of the disease. Now in most countries, including Russia, all children are tested for the disease on the 4-5th day after birth.

To do this, blood is taken from the newborn from the heel and the level of the pancreatic enzyme (immunoreactive trypsin) is determined in it. If its amount is above the norm, the child is sent for a sweat test - the main analysis for the diagnosis of cystic fibrosis.

To perform the test, the baby is injected into the skin with a drug - pilocarpine, which stimulates the sweat glands. With the help of a gauze napkin, sweat is collected, then the amount of salts in it is determined. The diagnosis is confirmed if the total salt content exceeds 60 mmol/l.

If children with cystic fibrosis have already been born in the family and a pregnant woman wants to exclude the birth of another sick child, perform prenatal diagnosis. The procedure is to puncture membranes and taking a small amount of amniotic fluid for a DNA test. Genetic analysis is done at the 8-10th week of pregnancy.

As the sick child grows, periodically carry out additional examinations, which help to assess the degree of damage lung tissue:

and chest x-ray
measurements of saturation (the degree of blood saturation with hemoglobin).

Constant monitoring of the bronchopulmonary system is necessary to prevent complications.

Treatment

It is not yet possible to completely overcome cystic fibrosis. However, there is a supportive treatment that allows patients to maintain the same active life like healthy people.

In the pulmonary form of the disease, therapy is aimed at thinning sputum in the bronchi and fighting infection.

To cleanse the respiratory tract of mucus, the patient is prescribed mucolytics. They must be taken daily throughout life. The main drug recommended for cystic fibrosis is Pulmozyme. It is more preferable. For procedures, metered dose inhalers or can be used. The specific device is selected by the attending physician.

Additionally, inhaled bronchodilators (Ventolin, Atrovent) are prescribed to facilitate breathing. They are useful to apply before.

In severe cases, hormonal corticosteroid drugs (Pulmicort) are prescribed. They reduce swelling and inflammation of the respiratory tract.

At the first sign of infection. The choice of agent depends on the results of sputum culture. This analysis must be taken to all patients every 3 months, even with good health. The duration of the course of antibiotic therapy is at least 3 weeks. The drugs can be administered orally, intravenously or by inhalation.

Cystic fibrosis is also called cystic fibrosis. This is a progressive genetic disease. Because of it, an infection occurs in the lungs and in the gastrointestinal tract.

There is a restriction of the function of the respiratory and stomach organs. People with this disease have a faulty gene that causes a buildup of mucus in the respiratory system, pancreas, or other organs.

Causes and Origins of Cystic Fibrosis

The mucus that is in the lungs traps bacteria inside and interferes with normal breathing. Thus, in the body of a healthy person, an infection is constantly formed, which leads to damage to the lungs, respiratory failure. If the mucus is located in the pancreas, then it does not allow the formation of digestive enzymes that break down food in the stomach. Therefore, there is no absorption of vital nutrients by the body.

The first symptoms of the disease were described in the forties of the XX century. From the name it follows that "mukas" is a Greek root that means "mucus", "viscous" is glue. If you put two particles together, then the disease can be translated literally as "mucus secretion." It is secreted outward by various secretions of the body. The substance has a high viscosity.

Physicians have determined that cystic fibrosis is genetic. The disease is inherited from parents. Cystic fibrosis is not contagious, even if a person has harmful working conditions and a difficult lifestyle, then it will not work. Doctors found that the disease is not related to the sex of a person. Cystic fibrosis can occur in both men and women.

The type of transmission of the disease is considered recessive, but not the main one. The disease is encrypted at the genetic level. If only one of the parents has unhealthy genes, then most likely the child will be healthy. According to statistics, a quarter of the heirs are healthy, and half contain the cystic fibrosis gene in their body, but it is located at the chromosomal level.

Approximately 6% of the adult population of the Earth in the body has the material of this gene. If a child comes from parents who have distorted chromosomal information, then only in a quarter of cases the disease is transmitted to the baby. This type of disease transmission is called recessive.

The disease is not related to a person's sex, because the material is not in the sex genes. Every year, an equal number of sick boys and girls are born. No additional factors affect the gender of a person. It doesn’t matter how the pregnancy went, how healthy the mother or father is, what living conditions they have. This disease is transmitted only genetically. In the nineties there were main signs of the disease:

Doctors have accurately established that the defective gene is located on chromosome 7.
Due to the mutation, a violation of the protein substance occurs, therefore, the viscosity of the secret occurs, its chemical and physical properties change.
It is not yet fully understood why a mutation appears and how it is fixed genetically.

Disease of the digestive and respiratory organs

Endocrine glands are organs that supply the blood biologically. functional elements called hormones. Thanks to them, physiological processes are regulated. Disease of the endocrine glands are symptoms of cystic fibrosis. Organs in human body who are responsible for the production of communications, the following:

These bodies include salivary glands, pancreas. They are responsible for producing bronchial secretion. In adults, the symptoms of cystic fibrosis are the pathological density of the physiologically necessary mucous layer. Thick mucus forms in the lumen of the bronchial tree. Therefore, the respiratory organs are excluded from the life process. The body ceases to receive the necessary oxygen, therefore atelectasis of the lungs is formed.

Due to cystic fibrosis, a fatty and protein layer is formed and distorted in the liver, bile stagnation occurs, as a result, the patient suffers from cirrhosis of the liver. The disease cystic fibrosis has another name - it is cystic fibrosis.

If a newborn child has intestinal obstruction, then the intestines suffer first of all. This is due to swelling of the submucosal layer of the intestine. The disease is almost always accompanied by other disorders of the gastrointestinal tract.

Symptoms of cystic fibrosis

Symptoms of the disease are detected in early childhood. Diagnosis of cystic fibrosis will help identify solutions, conduct effective treatment. If symptoms are not detected early in life, they may occur later in life. How to tell if a person has cystic fibrosis:

Chronic forms

The disease has clinical types, depending on the course, intestinal, atypical, meconium obstruction, bronchopulmonary, pulmonary forms are distinguished. The disease has a genetic form and is closely related to the daily physiological processes occurring in the body. Usually clinical manifestations cystic fibrosis are diagnosed in a newborn child. Cases have been reported in which the disease was detected in intrauterine development fetus. Meconium ileus is often diagnosed in newborns.

Meconium is called the original feces. These are the first bowel movements of a newborn baby. If the child is healthy, then the bowel movements are excreted on the first day. With the disease, fecal retention is associated with the absence of a pancreatic enzyme called trypsin. The intestine does not form this element, as a result, the feces stagnate. It occurs in the colon and caecum.

With the progression of the disease, symptoms are found:

The child first burps and then vomits.
The baby has a pronounced bloating.
The baby is restless, often and a lot of crying.

On examination, the doctor may notice an increased vascular pattern on the tummy; when tapped, a tympanic echo is detected. The mood of the child often changes: at first he is restless, and then lethargic. He does not have the necessary physical activity. The skin is pale and dry. Due to the fact that the child does not release feces in time, poisoning of the body occurs with the products of internal decay. When listening to the heart, the following symptoms are revealed:

Peristaltic bowel movement is not audible.
Breathing in a newborn is rapid.
Shows up sinus tachycardia hearts.

If a newborn is sick with cystic fibrosis, then he is diagnosed with swollen loops small intestine, and also sharply subsides the intestinal section in the lower part of the tummy. Due to the fact that the child is too small, his condition is rapidly deteriorating. The baby may have a complication.

It occurs due to rupture of the intestinal wall. And also a complication occurs in the form of pneumonia, in newborns it happens protracted and in severe form.

Shortness of breath

If the patient has a pulmonary form of the course of the disease, then he has pale skin, low weight. But at the same time, the person has a good appetite. If a newborn has a disease, then already in the first days of life he develops a cough, the intensity of which is constantly increasing. Pertussis-like attacks begin, which are called reprise. How does lung damage happen?

Mucus is formed in the patient's lungs, which is an excellent environment for the development of microorganisms that can cause pneumonia. The sputum subsequently becomes purulent and mucous, streptococcus is secreted from it, pathogenic microorganisms and staphylococcus. Inflammation of the lungs occurs in a complex and severe form, usually due to cystic fibrosis provoked the following complications:

Pneumosclerosis.
Abscesses.
Heart failure.
Pneumothorax.
Pulmonary insufficiency.

When the doctor listens to the lungs, wet rales are differentiated. The sound above the lungs has a boxed "echo". The patient's skin is pale, while the skin is dry.

With a benign course of the disease, signs of the disease occur only in an adult. At this time, the body develops compensation mechanisms. Symptoms gradually increase, chronic pneumonia develops, and then diagnosed pulmonary insufficiency. Bronchitis gradually appears with the transition to pneumosclerosis.

With cystic fibrosis, the upper respiratory tract does not remain without participation. In addition to the disease, adenoids, appendages in the sinuses and the growth of the nasal mucosa begin to form. A person may have chronic tonsillitis. The disease does not go unnoticed, appearance patient changes:

The upper and lower limbs are too thin.
Body weight is constantly decreasing, despite a good appetite.
On the lower limbs fingers form drumsticks.
The chest takes on a barrel-shaped appearance.
At calm state a person has shortness of breath.
The skin may become bluish in color.
The skin is pale.

In case of illness, the study will reveal thick mucus in the lumen of the small bronchi. Next, doctors will x-ray examination, where a decrease in the branches of small bronchi is usually diagnosed.

Signs of an intestinal form

In a healthy person, digestion is normal due to the release of the secret components necessary for this process. In patients with cystic fibrosis, digestive insufficiency is detected. This is due to the minimum production of the necessary fluids.

Symptoms of the disease occur when the child stops using only breast milk his diet is diversified. In this case, the digestion of food becomes more difficult, the food does not move through the digestive tract. Further, active putrefactive processes occur.

Outwardly, the disease is manifested by bloating and frequent stools. At the same time, the child's appetite does not decrease, he consumes large quantity food than healthy baby. But weight gain does not occur, while muscle tone lowered, the skin is inelastic and flabby. A person with cystic fibrosis secretes a minimal amount of saliva, so food is washed down with plenty of fluids. Dry food becomes very difficult to chew. The pancreas lacks the necessary secret, so the child is often diagnosed diabetes, peptic ulcer stomach and digestive tract anomalies.

The substances necessary for life are not absorbed by the stomach, so the body feels a lack of vitamins. The patient may develop hypovitaminosis. In infants, due to a lack of proteins in the plasma, swelling is observed. The liver also suffers, a large accumulation of bile is found, which leads to the formation of cholestasis. Outwardly, this disease is characterized by an increase in the size of the liver, dryness of the skin, the skin acquires a yellowish tint.

Mixed type of disease

This form is among the most complex species. Already from the first days, the newborn develops signs of intestinal and pulmonary form of cystic fibrosis:

Mixed forms of the disease are directly related to the age of the patient. From this disease have a more pronounced character and malignancy. The younger the child, the worse the prognosis for the relief of signs of the disease.

Diagnosis and history

If the patient has a decrease in weight, then the disease is characterized by hypertrophy. The patient usually lags behind physical development. And also diseases of the bronchi, sinuses, lungs are noted, and respiratory failure is formed. A common symptom of cystic fibrosis is pancreatitis and dyspeptic complaints. To accurately identify the disease, laboratory and clinical researches. They include:

The first test that is done is the sweat test. It is taken three times, the collection of fluid is carried out after provocative electrophoresis. Coprological studies are made to establish chymotrypsin in the stool. If pancreatic insufficiency is detected, then the analysis will give a result of more than 25 mol per day. Finding chymotrypsin is determined using a variety of tests.

Most exact method to determine the disease is DNA diagnostics. Now it is widely used by doctors, but this method has several significant drawbacks: In sparsely populated regions, the method is usually not available. DNA diagnostics are expensive. It is also used by doctors perinatal diagnostics. To reveal the history, take amniotic fluid. Analysis is possible after 20 weeks. The error of the result varies within no more than 4%.

Therapeutic measures

All actions for the treatment of the disease are symptomatic. Treatment of cystic fibrosis is aimed at improving the patient's condition. The main thing in therapy is the restoration of nutrients in the gastrointestinal tract. Patients have poor digestion, so their diet should be more fortified and saturated by 30% more than the usual diet of a healthy person.

Proper nutrition

The main diet is the consumption of the required amount of protein. The patient must in without fail include meat products, eggs, fish and cottage cheese in the diet. In this case, you need to reduce the consumption of fatty foods to a minimum. It is forbidden to eat beef and pork, because the meat has refractory fats. The lack of fatty acids is compensated by the use of polyunsaturated fatty compounds. To break down these elements, pancreatic juice and lipase are not needed. Usually it is in these substances that the patient's body is deficient.

Doctors recommend minimize lactose and carbohydrate intake. Analyzes establish what kind of lack of sucrose the patient has. Lactose is classified as a milk sugar found in dairy products. In the pancreatic juice of the patient, a deficiency of the enzyme is found, which is responsible for the breakdown of food. Therefore, dairy products will lead to poor digestion.

AT summer period in humans, sweating increases, respectively, there is a deficiency of sodium chloride in the body. Its deficiency is compensated by adding the substance to food. A person with cystic fibrosis should have plenty of fluids in their daily diet, as well as foods that include vitamins of all groups and useful substances. Should be taken in the right amount butter. The menu should also include fruits and vegetables.

Due to failures in digestive process enzymatic medicines are prescribed, the basis of which is pancreatin. The dose of drugs is determined based on the amount of stool and the determination of neutral fat in the feces.

Treatment of pulmonary pathologies

To combat the disease, the patient is prescribed mucolytics. These are special elements that soften bronchial sputum. Treatment should be carried out throughout the life of the patient. It consists not only in the use of medicines, but also in carrying out physical procedures:

Bronchoscopy is a special event that allows you to effectively deal with cystic fibrosis. The bronchial tree is flushed with saline or mucolytics. If a patient has respiratory diseases, pneumonia or bronchial otitis media, then antibacterial medicines will be needed for treatment. The main symptom is indigestion. Therefore, antibiotics are administered orally by aerosol or injection.

Main medical event considered a lung transplant. This is a serious operation, the question of holding an event arises when the therapy has exhausted its possibilities. To improve the patient's quality of life, both lungs will need to be transplanted.

This procedure will help if other organs in the body are not affected by the disease. Otherwise, serious intervention will not bring the expected effect.

Forecast Definition

Cystic fibrosis is one of the most complex diseases. The symptoms and types of the disease vary greatly. Cystic fibrosis is affected different factors where the main factor is age. The disease affects a person's life until his death. In the treatment of the disease, progress has been made, but the prognosis is still considered unfavorable. In more than half of the cases of cystic fibrosis, there is fatal outcome. And also life expectancy is short - from 20 to 40 years. In Western countries, with proper treatment, patients on average live up to 50 years.

Treatment of cystic fibrosis is a very difficult undertaking. The main task of doctors is to stop the development and progression of the disease. The treatment process is only symptomatic. Active prevention can prolong the life of the patient. To prevent cystic fibrosis from progressing, the following actions:

It is impossible for them to spread through the bronchi pathogenic bacteria. Thick mucus is often found in them, so the bronchi must be cleared of harmful accumulation. Treatment should occur not only during attacks, but also in the passive course of the disease. For chronic and acute processes are used the following medicines:

Women who suffer from cystic fibrosis find it extremely difficult to get pregnant. During gestation, the fetus may experience a number of complications, this is a danger to the child and the mother herself. Now the disease of cystic fibrosis is not fully understood, but there are many methods of struggle that can prolong the life of patients with a complex diagnosis.

One of the most common diseases that are inherited is cystic fibrosis. The child develops a pathogenic secret, which leads to disruption of the digestive tract. It is characteristic that this disease is chronic and most often manifests itself if both parents have a special defective gene. If only one parent has such a site with a mutation, then the kids will not inherit the disease. As a rule, cystic fibrosis is diagnosed in the first year of a child's life (or even in the womb).

Medical history

Cystic fibrosis in children develops due to a violation of the structure of the 7th chromosome (its shoulder). In this case, the mucus in the body becomes more viscous. It is known that almost all internal organs are covered with a secret of this type. Due to this, their surface is moistened, and separating, the mucus further cleans it. But if a failure occurs, then the viscous secret stagnates and accumulates. In such an environment, pathogenic microorganisms also multiply, which leads to permanent infection. In the future, the organs of the digestive system are affected, the body suffers from insufficient oxygen supply. For the first time, cystic fibrosis in a child was described in 1938 by D. Andersen. Until that time, a large number of children simply died from pneumonia and other diseases that were the result of cystic fibrosis. More information about this disease appeared already at the end of the twentieth century. Almost every twentieth inhabitant of our planet is a carrier of a mutating cystic fibrosis gene. This defect has nothing to do with the bad habits of parents at the time of conception, with taking medicines. Also, its presence is not affected by adverse environmental conditions. Both girls and boys are affected equally.

Forms of cystic fibrosis

This disease can have three main forms.

The first of them is pulmonary. It occurs approximately from the number of all cases. It is characterized by the fact that the bronchi are clogged with thick mucus. After a while, they are able to completely clog. The secret becomes an excellent breeding ground for bacteria and microbes. Over time, the tissues of the lung thicken and become hard. Cysts appear. Further, lung function only worsens. The person may die from suffocation.
Cystic fibrosis in a child can also have an intestinal form. At the same time, the work of the digestive system organs is disrupted, food is poorly digested. This condition provokes the development of diabetes mellitus, peptic ulcer, liver cirrhosis, etc. It occurs in 5% of cases.
The most common form is mixed. It is diagnosed in 75% of patients genetic disease.
Very rarely (about 1%) there is also an atypical form.

This form of the disease is often called respiratory. As a rule, signs of the disease appear in newborns immediately. Cystic fibrosis of the lungs in children has the following symptoms: cough, general lethargy, pale skin. Over time, the cough intensifies, it is accompanied by the release of thick sputum. Gas exchange processes are disturbed. Fingertips may thicken. Often, children with cystic fibrosis also suffer from pneumonia, which is quite severe. Respiratory tissues are affected by purulent inflammatory processes. Pneumonia turns into chronic condition. Overgrowth possible connective tissue in the lungs. Over time, cases of the appearance of "cor pulmonale" are not uncommon.

Pulmonary cystic fibrosis symptoms in children and adults are similar: the skin is earthy in color, the chest becomes barrel-shaped, the fingertips are deformed. There is also shortness of breath even at rest. Due to a decrease in appetite, the weight of the patient also decreases. However, the symptoms of the disease may appear much later. This is a more favorable form for the patient.

Stages of the course of cystic fibrosis of the lungs

There are several stages in the course of this disease.

The first stage is characterized by the appearance of a cough, usually dry and without sputum. In some cases, shortness of breath may also be observed. A feature of this stage is that it can last even several years (up to 10).
The second stage is the appearance of bronchitis in chronic form, changing the phalanges of the fingers. There are secretions when coughing. This degree of the disease also lasts quite a long time - up to 15 years.
In the third stage, complications develop. The tissues of the lung are compacted, cysts appear. Against this background, the heart also suffers. The duration of this period of the disease is 3-5 years.
The fourth stage (several months) is characterized by extremely severe damage to the respiratory organs, the heart. The outcome is usually fatal.

Signs of intestinal cystic fibrosis

This form of the disease is characterized by a malfunction of the digestive system. Intestinal cystic fibrosis in a child is especially pronounced during the introduction of complementary foods. At the same time, poor absorption of fats and proteins is observed (carbohydrates are absorbed somewhat better). Due to the development of decay processes in the intestines, toxic compounds are formed, the stomach swells. Significantly increased the number of bowel movements. If a diagnosis of "cystic fibrosis" (intestinal form) is made, children can also be observed. Often, patients also complain of dry mouth. Difficulty eating dry food. With further progression of the disease, body weight decreases.

This disease is also characterized by polyhypovitaminosis, since as a result the body lacks vitamins of almost all groups. As a rule, the muscles lose their tone, the skin becomes less elastic. One more characteristics cystic fibrosis in children intestinal type) - pain of a different nature in the abdomen. Over time, there may be peptic ulcer, and diabetes mellitus (latent form). The disease also affects the functioning of the kidneys and liver. If the liver is affected, the stool becomes black. Toxins accumulate in the body and reach the brain through the bloodstream. They have a negative impact on nerve cells encephalopathy develops. Also contributes to the gradual increase in the spleen intestinal cystic fibrosis in children. A photo of the pathologically altered intestine (in cross section) is presented below.

Mixed form of the disease

This type of disease is characterized by the presence of signs of both pulmonary and intestinal forms. As a rule, frequent and prolonged pneumonia, bronchitis are observed in newborns. In almost all cases, there is also a cough. In addition, mixed cystic fibrosis in children is accompanied by bloating, the stool is usually liquid, its color becomes green. There is a dependence of the severity of the course of the disease on the time when the symptoms first appeared. As a rule, if the first signs are found in the early age, the prognosis is rather poor.

Meconium ileus

Cystic fibrosis provokes an increase in the viscosity of body secrets, including meconium - the original feces in children. As a result, intestinal blockage occurs. This form of the disease is observed from birth, when meconium does not depart. The child becomes restless, often burps (even with bile impurities). Then there is bloating, the skin becomes pale. The further course of the disease contributes to the fact that the newborn significantly reduces motor activity(or even stop it altogether). The reason for this condition is the lack of trypsin. Meconium ileus is quite dangerous and requires surgical intervention.

Diagnosis of the disease

Diagnosis of cystic fibrosis in children includes examination for the presence of hereditary and congenital pathologies. Blood, urine and sputum are also analyzed. There is also a coprogram. It allows you to determine the presence of fatty inclusions in the stool of a child. The respiratory organs are also examined (radiography, bronchography, bronchoscopy). Spirometry is also necessary, as it allows you to evaluate functional state lungs. If cystic fibrosis is suspected (children may not show symptoms), genetic testing is done. They help to establish the presence of mutations in the gene that is responsible for secretory activity organism. Newborns spend neonatal screening(the concentration of trypsin in a dried blood spot is studied). The sweat test is also quite informative. If sodium ions, chlorine ions are found in sweat in an increased amount, then with a high probability we can talk about the presence of this disease. If a woman in whose family there were people diagnosed with cystic fibrosis is expecting a child, then doctors recommend examining for a period of approximately 18-20 weeks.

Cystic fibrosis therapy

It is worth noting that it is impossible to completely get rid of this disease. However, therapy can significantly improve both the quality of life and its duration. Previously, many patients with a similar diagnosis died before the age of 20 years. However, now with the right timely treatment you can live much longer. intestinal form requires special diet. Food should be rich in proteins (fish, eggs). The complex is additionally assigned vitamin preparations. It is also necessary to take enzymes ("Creon", "Pantsitrat", "Festal", etc.). It is worth noting that such drugs must be taken all your life. The fact that the treatment gives a result will be evidenced by the normalization of the stool, the absence of weight loss and even its gain. Pain in the abdomen disappears, and no inclusions of fat are found in the feces.

In the pulmonary form of the disease, drugs are needed that will help thin the sputum and restore the functionality of the bronchi (Mukosolvin, Mukaltin). It is very important in the treatment of pulmonary cystic fibrosis to prevent the development of infectious processes in the lungs. good effect gives and special breathing exercises. It must be carried out regularly. Antibiotics may also be prescribed for treatment. Forgetting about the disease for a considerable time helps such a radical method as However, it has its drawbacks: the risk of rejection, taking drugs that depress the immune system. In addition, the patient must be in reasonably good physical condition. Most of these transplants are performed abroad.

Doctors strongly recommend that patients with this diagnosis should be vaccinated against whooping cough and similar diseases in a timely manner. It is very important to exclude potential allergens: animal hair, pillows and blankets from bird feathers. Passive smoking is also strictly prohibited. Such a diagnosis suggests Spa treatment children. If the severity of the disease is not critical, then the child attends educational establishments, sport sections, leads pretty active image life. Treatment of cystic fibrosis in children under the age of one year involves the use of special mixtures (Dietta Extra, Dietta Plus). In addition, it is necessary to increase the single serving by 1.5 times. Also, in addition, a small amount of salt is introduced into the baby's diet (this is extremely necessary in the summer).

The patient menu deserves special attention. It should be rich in fats (cream, butter, meat), as absorption useful substances violated. Drinking is also necessary plentiful. It is worth remembering that taking enzyme preparations is required every day. In addition to the main treatment, you can use the means folk therapy. Facilitate the discharge of sputum, herbs such as marshmallow, coltsfoot. Good influence on digestive system render dandelion, elecampane. Use and essential oils for inhalation (lavender, basil, hyssop). In addition, general strengthening products, such as honey, are also useful.

Forecasts

Unfortunately, life expectancy with this diagnosis is not very high. On average, patients live for about 30 years (in Russia) or up to 40 or more (abroad). However, timely diagnosis and proper treatment significantly improve the patient's condition. The most unfavorable prognosis is early manifestations cystic fibrosis (in infants). But there is also a case when a patient with a similar disease lived for more than 70 years. Such a difference in life expectancy in Russia and other countries is due to the financial moment. Abroad, patients receive lifelong state support. Thanks to this, they can lead a normal life, study, create families and give birth to children. Russia, on the other hand, cannot properly provide patients with the necessary medicines (including enzyme preparations, special antibiotics, and mucolytics). Only a limited number of children receive free medical care and necessary medicines. Patients stay on a special account all their lives. To exclude the occurrence of such a disease, it is necessary to consult a geneticist at the stage of pregnancy planning.

Psychological tips for parents

Many publications are aimed at supporting parents whose child suffers from cystic fibrosis. First of all, don't panic. Need to get it as soon as possible more information about the disease in order to effectively help the child to overcome its consequences. It is important to regularly remind him of your love.

The disease significantly affects not only the physical condition, but also, to some extent, the emotional state. Therefore, difficulties cannot be avoided (however, they are also present in the upbringing of healthy children). Some manipulations can be entrusted to the smallest patient. Experts say that at the same time, children not only learn about their illness, but also, taking care of themselves, feel much better.

So that parents do not feel alone in the fight against cystic fibrosis, it is necessary to communicate with families who are faced with a similar problem. This can be done on special Internet forums. There are many funds where you can apply for both psychological and financial assistance. It is important to remember that such a diagnosis is not a sentence. Quite a few famous people suffered from this genetic disease, but this did not prevent them from achieving success in life. Singer Gregory Lemarchal, comic actor Bob Flanagan (lived to 43) are just some examples of how one can live and develop with such a diagnosis. In addition, medicine does not stand still: in the United States, global studies are being conducted on gene therapy for cystic fibrosis. If it is difficult to cope with your emotions on your own, you can always seek help from a psychologist.