With cystic fibrosis, the following symptom is noted. Symptoms in adults

Date: 20.04.2019

Cystic fibrosis is a genetic disease transmitted by inheritance, which is characterized by damage to the endocrine glands of most vital internal organs.

This hereditary genetic disease got its name from the addition of two words of Latin origin - “mucus” and “viscidus”, which translate as “mucus” and “sticky”. The term that describes the disease quite accurately implies thick, sticky mucus, which adversely affects the respiratory organs, the gastrointestinal and urogenital tracts, and causes damage to the kidneys and urine excretion pathways.

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

Causes of occurrence

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

If a cause is found in the gastrointestinal tract of cystic fibrosis, specialists distinguish the following:

Since the pancreas secretes enzymes into the blood, it can be attributed to the organs of internal secretion. The secreted enzymes enter the bright space of the duodenum, their direct purpose is the complete digestion of nutrients. So why is cystic fibrosis diagnosed? The fact is that when the baby is inside the womb, his exocrine glands develop later than they should be. And when a baby is born, a deformation of the pancreas is observed, which causes interruptions in the work, the release of highly viscous mucus, which lingers in the lumens located in the pancreatic ducts. Mucous enzymes are activated, little by little they begin the destructive process.

Digestive disorder occurs. As a result, the baby has a viscous, fetid stool. Such a dense stool causes obstruction of the intestine, so constipation appears, causing quite painful sensations, a swollen abdomen. The process of absorption of nutrients is disrupted, there is a lag in the physical development of the child, and there is also a decrease in the efficiency of the immune system.
Other organs of the gastrointestinal tract may be susceptible to gene pathology, which causes negative pathological changes, but the consequences are not as serious as in the above two cases. Although there may be problems with the liver, gall bladder, salivary glands.

It is also possible to develop respiratory cystic fibrosis (or pulmonary cystic fibrosis).

Its progression usually occurs according to the following scenario:

First, stagnation of mucus occurs in the bronchi, which upsets the mechanism of 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. The germs that are spread everywhere are stuck in the small bronchi, the epithelium of the lung. And viscous mucus is a very favorable environment for the emergence of harmful bacteria (maltophia, sepation, etc.).
Due to stagnation of mucus, the appearance and development of bacteria, inflammation begins, which subsequently leads to a malfunction of the defense system in the epithelium of the bronchi. There is a structural violation of the 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, pulmonary cystic fibrosis can be detected.
Due to the destructive processes that occur, the bronchial skeleton is rapidly destroyed, which consists of flexible and springy tissue. There is a gradual subsidence of the bronchi, narrowing of their lumen, which causes stagnation, bacteria develop, pathogenic changes are manifested.

Although it is worth noting that due to the pathanatomy, the changes that have 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 can be born with this pathology, but no symptoms are manifested, therefore, cystic fibrosis in adults is mainly considered.

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

Respiratory cystic fibrosis

The disease can affect the lungs and bronchi. How does this happen? The disease begins unnoticed, over time, the manifestations progress, after which the disease becomes chronic. Only when born, the baby does not yet have sufficiently developed reflexes of sneezing, coughing. That is why a large amount of sputum accumulates in the cavities of the nose, nose of the pharynx, mouth of the pharynx, bronchi.

Nevertheless, cystic fibrosis manifests itself not earlier than the child reaches a six-month mark. This is usually associated with the transfer of a six-month-old baby by nursing mothers to mixed food, thereby reducing the amount of breast milk received by the baby.

This fact has such an effect, since mother’s milk contains a large amount of nutrients, including immune cells, which protect the little man from the negative effects of harmful bacteria. As milk becomes smaller, protective cells, too, which immediately affects the condition of the child. If you add to this stagnation of thick mucus, the mucous membrane of the trachea, bronchi must be infected.

And all parents care about how long their child will live with such a disease. The answer will make them happy - 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 is worth noting that such a person can subsequently be born completely healthy children.

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

When coughing, a small amount of viscous sputum is released. The 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 cyanotic, shortness of breath occurs.
Body temperature, as a rule, is 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 enough body weight (under normal conditions, up to ten and a half kilograms).
The child is lethargic, pale, lethargic, which serves as a signal of a delayed development.

If the disease progresses, severe pneumonia appears:

Body temperature rises to 38-39 degrees.
Intense cough, discharge thick, purulent.
Shortness of breath, getting stronger when the baby coughs.
Signs of intoxication appear: headache, vomiting, nausea, dizziness, impaired consciousness.

Pneumonia periodically worsen, eventually destroy lung tissue, can lead to complications.

Other symptoms of respiratory cystic fibrosis:

Barrel-shaped chest.
Dry, inelastic, inelastic skin.
Dull, brittle, falling out hair.
Dyspnea.
Bluish skin color, as there is not enough oxygen.

The consequence of the above symptoms is the appearance of heart failure. It appears when the heart cannot advance blood in the deformed respiratory organs, and the load on the heart muscle increases, which stimulates its growth.

Signs of heart failure:

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

Cystic fibrosis in the gastrointestinal tract

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

the stomach swells due to increased gas formation, since digestion is insufficient.
Severe and uncomfortable condition inside the abdomen.
Shingles, intensified many times by eating fried, greasy 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 luster.

Video

Video - muscoviscidosis in a child

Diagnostics

With cystic fibrosis, the diagnosis contains several stages. The best state of affairs is the examination of future parents for genetic components. If pathologies are detected in the gene code, the doctor informs them of this, conducts an explanatory conversation about the alleged risk and possible consequences.

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

Laboratory research

The following tests are carried out in the laboratory, which can detect changes in the functioning of some organs and systems:

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

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

Blood test. He will show a reduced number of red blood cells, hemoglobin, that is, anemia.
Fecal analysis. Feces contain an increased amount of fat and dietary fiber that have not been digested.
Analysis of discharge. With cystic fibrosis, sputum should contain pathogenic bacteria and protective cells.

Other studies

1. Measurement of physical indicators.

Such an examination involves the measurement of:

head circumference;
growth;
weight
chest circumference.

Pediatricians specially designed tables to determine the degree of development of the child, helping to understand whether everything is in order with a man of his age.

2. Chest x-ray. A clear picture is not determined on the radiograph, the degree of the spread of pathology in various organs and systems affects the result.

3. Ultrasound examination. It is carried out only in the presence of severe damage to the heart, liver, gall bladder and for prevention.

Treatment

Therapy of this disease is a difficult event, mainly doctors treat only the symptoms, preventing them from developing further.

Nevertheless, with 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 by observing proper nutrition, including nutrients;
avoidance of stressful situations due to a permanent state of fatigue, medication, various procedures.

If the patient has acute, inflammatory processes, antibiotics, glucocorticoids, oxygen treatment, physiotherapy may be prescribed.

Kinesitherapy for cystic fibrosis is also commonly prescribed.. It consists of mandatory for all patients complex exercises.

This complex includes:

postural drainage. Thanks to this exercise, intensive separation of mucus from the bronchi occurs. The patient lies on the bed and then successively rolls from side to side, from back to stomach.
Vibrating massage. The chest of the patient is tapped in a special way, which makes the patient cough and, accordingly, secrete mucus.
Active breathing cycle. First you need to breathe calmly and measuredly, then take deep and quick breaths and, finally, strong and quick breaths.

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

Conclusion

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

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

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Cystic fibrosis is a severe hereditary disease associated with a specific systemic violation of the activity of exocrine glands. When they are affected, patients experience pathological symptoms from various body systems. The disease refers to chronic incurable ailments with a progressive course.

If you translate the name of the disease from Latin into Russian, you get "sticky mucus" - a phrase that fully reflects the nature of the disease in question. Today, several hundred mutations have been found in the cystic fibrosis gene. In European countries, the incidence rate is 1: 2500. Since cystic fibrosis is a congenital genetically determined pathology, it is impossible for them to become infected after birth.

However, the disease occurs not only in children, but also in adults. This is due to the fact that for a rather long time it may not manifest itself in any way symptomatic. In most cases, cystic fibrosis is diagnosed in early childhood. The birth of a child with cystic fibrosis occurs when each of the parents gets one mutated gene. When only one gene is inherited, the child will not get sick, but will become a carrier of the disease.

With the described disease, all the glands of the human body produce a viscous and thick secret, which accumulates in the ducts and internal organs, causing their dysfunctions. In this case, it suffers:

respiratory system - due to blockage of the lumen of the bronchi with a mucous secret in cystic fibrosis, the gas exchange process is inevitably disturbed, infectious complications, pulmonary hypertension and respiratory failure develop;
pancreas - mucus blocks the ducts of the gland, which leads to the activation of digestive enzymes directly in the pancreas, and not in the intestine, as this should happen normally. This contributes to the destruction of the organ, the formation of cysts in it, the development of inflammation, the violation of hormonal function;
liver - due to stagnation of bile, the liver suffers from constant inflammation, its connective tissue grows, the functioning of the organ is disrupted, eventually cirrhosis develops;
digestive system - excretory ducts are clogged, the process of food absorption is disrupted, intestinal obstruction is also possible;
a heart - with the described disease, secondary heart damage is often found, since the heart muscle with pulmonary hypertension is forced to work with triple strength. Many patients develop heart failure over time;
genitourinary system - men with cystic fibrosis in most cases are. Women also have problems conceiving, associated with too high a viscosity level of mucus produced by the cervix.

Modern medicine allows you to maximize the life of patients with cystic fibrosis. Severe complications leading to the progression of the disease and irreversible changes up to a fatal outcome can occur if medical recommendations are not followed. In children, a general lag in physical development is often noted, while mental abilities remain normal.

The main cause of the disease is genetic mutations on the seventh chromosome. It is in it that the gene is located, on which lies the responsibility for the synthesis of protein (chlorine channel) in the glands of external secretion. Why do such failures occur, scientists have not yet been able to find out.

Important! With the disease in question, a lesion occurs mainly in the bronchopulmonary and digestive systems. Other organs and systems are also affected, but to a much lesser extent.

Pathological processes in the bronchopulmonary system develop due to congestion in the bronchi. Because of them, the function of cleansing the organ from dust and other substances inhaled by humans is disrupted and the active reproduction of pathogenic microflora begins. Gradually, the inflammatory process contributes to the inhibition of the protective function of bronchial tissue, the framework of the organ itself is destroyed, the lumen of the bronchial tree narrows, which further aggravates the stagnation of the viscous secretion.

If we consider the mechanism of gastrointestinal damage, then even in the period of fetal development of the fetus, there is a delay in the formation of endocrine glands. The pancreas is deformed, produces excessively thick mucus, clogging the ducts of the organ. As a result, digestive enzymes are activated directly in the organ itself, thereby gradually destroying it.

Forms of Cystic Fibrosis

A disease can have many manifestations with varying degrees of severity. The classification of cystic fibrosis includes the following forms:

pulmonary form - It is diagnosed in approximately 20% of cases and is characterized by lung damage. Most often, the ailment is detected in the first years of the baby's life, in which, due to a lack of oxygen, symptoms of disorders from almost all internal organs are noted;
intestinal form - occurs in approximately 10% of patients. The first signs of this type of cystic fibrosis are noted, as a rule, at the age of six months, when the child is transferred to artificial nutrition. He does not properly digest food, develops hypovitaminosis, there are disorders of feces and obvious signs of a lag in physical development;
mixed form - it is diagnosed most often (in about 70% of patients) and is characterized by simultaneous damage to the bronchopulmonary system and gastrointestinal tract;
worn out forms - May be manifested by bronchitis, sinusitis, infertility in men and women, cirrhosis of the liver;
meconium ileus - intestinal obstruction in newborns caused by obstruction by meconium of the final ileum.

The symptomatology of the disease can vary depending on many factors, in particular age, the time of onset of the first clinical signs, duration of the course, etc.

With the spread of the pathological process to the bronchopulmonary system in sick children after cessation of breastfeeding, there is:

persistent cough with viscous sputum;
a slight increase in temperature in the absence of signs of acute intoxication of the body;
if a secondary infection joins, it may develop severe, accompanied by high fever, shortness of breath, severe cough, intoxication signs (nausea, vomiting, dizziness, etc.);
with all this, the child is not gaining weight well, is lethargic and lethargic;
the chest becomes barrel-shaped;
condition of hair and skin worsens;
there is shortness of breath, which intensifies with physical exertion;
bluish tint of the skin.

With secondary damage to the heart due to impaired gas exchange and oxygen tissue nutrition, patients develop heart failure, accompanied by symptoms of cystic fibrosis such as:

shortness of breath, including at rest;
skin cyanosis;
cardiopalmus;
swelling of the legs.

If the disease affects the exocrine glands of the pancreas, the patient develops symptoms similar to those that appear with a chronic form of pancreatitis. Observed:

bloating;
a feeling of heaviness in the stomach;
girdle pains that become more intense after eating fried and oily;
frequent episodes.

In children with such a genetic pathology, there is a general weakening, increased susceptibility to infections. Usually the lesion affects the gall bladder and liver the least, so characteristic yellowness of the skin appears already in the later stages. With cystic fibrosis, disorders of the genitourinary sphere are noticeable.

Note! The combination of all the increasing clinical manifestations and symptoms of cystic fibrosis almost inevitably leads to disability. Due to frequent exacerbations, patients become weakened, exhausted by the disease. However, with adequate care and proper treatment, people with this disease are able to lead a full life.

The life expectancy of such patients is an average of twenty to thirty years.

How is the diagnosis

The diagnosis of cystic fibrosis involves several important steps. To prevent serious complications of the disease and take measures to improve the living conditions of a sick child will allow the early detection of pathology, which is based on the clinical signs of chronic inflammation in the bronchopulmonary system or the corresponding symptoms of gastrointestinal damage.

So, the diagnosis of the disease in question includes:

laboratory tests: sweat test based on the determination of the amount of chlorine ions in the sweat after pilocarpine is administered, coprogram, general blood test, sputum analysis;
roentgenography;
spirometry;
molecular genetic research;
measurement of anthropometric data;
Ultrasound - is prescribed for severe damage to the heart, gall bladder and liver.

The possibilities of modern medicine also allow for prenatal diagnosis - the detection of cystic fibrosis and other genetically caused diseases in the prenatal period. If the disease is detected early, the question is raised about the artificial termination of pregnancy.

As already mentioned, cystic fibrosis is an incurable disease, however, competent maintenance therapy can significantly facilitate and extend the life of patients.

Note! Treatment for cystic fibrosis is symptomatic, and it should be carried out throughout life. Interruption of therapy is fraught with rapid progression of the disease with the development of severe complications.

It is extremely important for all patients to take as a rule:

regularly clean the viscous secretions of the bronchi;
to carry out prophylaxis, which will protect the bronchi from the multiplication of pathogens in them;
constantly strengthen immunity;
fight the state of stress, which inevitably arises as a result of a debilitating struggle with the disease.

Conducting therapeutic measures is necessary, both in acute periods and in periods of remission.

In inflammatory processes in organs affected by the disease, the following are prescribed:

drugs from the group;
glucocorticosteroids - hormone-based drugs (prednisone) that help cope with infectious processes and inflammations. They are prescribed only in severe cases, when a patient has a blockage of the airways;
oxygen therapy;
physiotherapy and inhalation.

With identified violations of the digestive tract, therapy is needed to improve the process of assimilation of food. Patients are assigned a special high-calorie diet. Children under the age of one year are usually recommended special nutritional supplements. Drugs are also prescribed to improve liver function.

Important! With cystic fibrosis, treatment of all chronic infectious foci is mandatory, whether it is a common cold or caries.

And although medical scientists have not found an effective medicine that can completely cure cystic fibrosis, they have developed special techniques that greatly facilitate well-being and can be performed even by the patients themselves. The most significant way to treat cystic fibrosis was the so-called kinesitherapy, which consists in regularly performing a number of exercises and procedures that improve lung ventilation. Kinesitherapy includes postural and vibration massage, as well as the practice of an active breathing cycle with a positive pressure when exhaling.

The most radical treatment option is lung transplant surgery. Transplantation can stabilize the patient only when other organs and systems have not been affected. After the operation, drugs that inhibit the activity of the immune system are mandatory, which helps to avoid rejection of the transplanted organ. The surgical intervention itself is very complex and lengthy, and its successful implementation does not exclude the need for a lifelong treatment of cystic fibrosis.

Prevention

As for the prevention of cystic fibrosis, one of the most important measures to prevent morbidity is considered prenatal diagnosis, with which you can detect the presence of a defect in the seventh gene before the onset of childbirth. To strengthen immunity and improve living conditions, all patients need careful care, good nutrition, personal hyena, moderate physical activity and providing the most comfortable living conditions.

Chumachenko Olga, pediatrician

Each person is happy and satisfied when his body functions correctly, pain does not occur in the internal organs, and well-being leaves much to be desired.

However, the impact of various factors, starting from a genetic predisposition, ending with the negative impact of the natural environment, leads to the appearance of pathologies, which manifest themselves in the form of many external signs.

One of the most serious inherited diseases is rightly considered cystic fibrosis, the symptoms of which are very diverse. It is associated with genetic disorders in human cells and cannot be cured. The respiratory system, digestive tract and some other systems are mainly affected. Cystic fibrosis in children is extremely acute.

We will examine the issue raised in more detail.

Basic concepts

Cystic fibrosis, the signs of which we will consider a little later, also has another name - cystic fibrosis of the pancreas. This term is widely used in medical science of the New World (USA, Canada) and Australia. In Europe, as in our country, the described pathology is usually called cystic fibrosis. Treatment, of course, does not depend on the terminology, but is based on the data obtained during the examination.

No need to think that this disease is rare. Cystic fibrosis in children is diagnosed in at least four cases for every 10,000 infants. It affects kids, both male and female.

Pathology, as already mentioned, is hereditary, that is, it is impossible to become infected with it. It is not always possible immediately after birth to establish that a newborn has cystic fibrosis. Symptoms of the disease may not occur for quite some time.

Medicine knows cases when the disorder was diagnosed in patients who have reached adulthood. However, in the vast majority of cases, we are talking about the first months or years of life, that is, it is precisely cystic fibrosis that is found in newborns.

Features of the disease transmission mechanism

You can get a genetic disorder only when the child inherited the altered gene from the mother and father. Otherwise, the patient is considered only a carrier of the disease. Analysis for cystic fibrosis will not give positive results.

The fact is that the genetic structure of each person is paired, that is, the baby receives one gene from each of the parents. Some of the resulting genes are not able to function normally due to any damage.

But in order for cystic fibrosis in children who receive altered genes to develop fully, both are necessary. This mechanism, by the way, is inherent in the vast majority of genetic pathologies.

Thus, if both parents are carriers, the child may become ill with a 25% probability.

All forms of cystic fibrosis appear in babies before they reach 2 years of age. Only in 30% of cases external signs remain hidden for a longer period. Recently, however, the latest diagnostic methods, which, for example, include neonatal screening, are becoming more widespread. It allows you to identify signs of the disease at a very young age.

Pathology

The pathogenesis of the disease is not fully defined by any medical specialist. Cystic fibrosis in adults and children begins with the release by some internal glands of the body of a specific substance that has a very high density and viscosity.

This internal secret, due to its physical properties, clogs most of the ducts in the mucous membranes of the internal organs. As a result of the process under consideration, there are:

cystic fibrosis of the mucous glands and other similar organs.

The development of the disease leads to the appearance of secondary processes in the lungs, liver, pancreas and gastrointestinal tract. This is mainly due to violations in the process of isolation of enzymes, as well as the occurrence of foci of inflammation, which negatively affects the proper functioning of the organs in question.

Cystic fibrosis, the symptoms of which can manifest itself, as already mentioned, in many glands of the body, leads to a lack of phosphorus, potassium and sodium in the body. By the way, many experts believe that this is why secrets secreted have a high viscosity.

Complications in the internal organs

In the body of a person who is diagnosed with cystic fibrosis, a thick secretory fluid is released. As a result of the obstruction of the ducts in some organs and systems of the body, the process of formation of small-sized tumors (the so-called cysts) begins.

The mucus remaining inside the person, at the advanced stages of the course of the disease, causes atrophy of the tissues of the endocrine glands, as well as developing fibrosis. The latter, in particular, leads to the gradual replacement of normal tissues of endocrine organs with connective cells.

Early sclerotic changes in organs also often accompany cystic fibrosis. Diagnosis of such changes is complicated by the fact that the process is accompanied by the occurrence and growth of purulent inflammation.

Lung dysfunctions

The disease leads to the fact that the bronchial system in the lungs ceases to function correctly not due to difficulties in the process of sputum discharge (due to the increased viscosity of the secretion), but because of chronic inflammatory processes that occur in this organ.

Dysfunction of the respiratory system, in particular, of the lungs, begins with the appearance of obstruction of the bronchioles in the bronchi. The presence of mucopurulent mass in these internal organs leads to their increase in size and, as a result, clogging of the gaps between the bronchi. In the end, the patient with cystic fibrosis begins to have difficulty breathing due to complete blockage of large sections of the lungs, that is, obstruction.

Sputum, which accumulates in the lungs, in addition to breathing problems, causes a violation of the blood supply to the organ. Outwardly, this manifests itself in the form of a strong and painful cough, always accompanying cystic fibrosis, the symptoms of which are now being considered.

Deterioration of the immune system leads to the fact that the human respiratory system is infected with a number of other microorganisms, for example, staphylococcus or Pseudomonas aeruginosa. This is due to:

decreased levels of interferon;
a decrease in the number of antibodies;
decreased activity of phagocytes.

Infectious pathogens continue destructive actions in the patient's body, which destroys the internal epithelial layer of the bronchi.

Concomitant diseases of the respiratory system

Cystic fibrosis in children and adults leads to many pathologies that, at first glance, are not related to the genetic disease in question.

In particular, pneumonia and bronchitis occur. Moreover, they are of a recurrent nature and appear in patients, starting from the first weeks of life.

The development of infection in the lungs leads to an even greater increase in the mucous contents in the bronchi, as well as an increase in sputum viscosity, which carries a significant risk for the patient, especially in the first years of life. In especially difficult cases, respiratory failure can be diagnosed, which often leads to death.

In order to better understand the condition that patients with cystic fibrosis experience, imagine that you are always in a gas mask. At the same time, the inlet filter of this device clogs more and more and gradually passes the less amount of oxygen necessary for the body to breathe.

The same thing happens with the genetic disease in question. In most patients, the lungs perform their functions by no more than a quarter.

Forms of Cystic Fibrosis

Externally, the disease can manifest itself in the form of many symptoms and signs. It depends on the nature and severity of the negative changes that have occurred in the body, the presence or absence of any complications, as well as the age of the patient.

In total, several forms of pathology are distinguished:

pulmonary (respiratory or bronchial);
intestinal;
mixed (both the lungs and the gastrointestinal tract are affected);
meconium blockage of the rectum;
atypical;
worn out.

It should be noted that the above classification is only approximate and indicative. This is due to the fact that cystic fibrosis, affecting some organs, negatively affects the proper functioning of others. For example, mucus obstruction of the bronchial canals in the lungs can be accompanied by intestinal damage, and pathologies in the digestive organs are simultaneously reflected in the respiratory system.

Each individual case of diagnosing cystic fibrosis may have a different clinical picture. But most often the following organs suffer:

intestines;
lungs;
pancreas;
liver.

In this case, in no case was the negative effect of cystic fibrosis on the mental abilities of the patient recorded.

An atypical or sluggish form of a genetic disorder is usually diagnosed by chance during routine medical examinations. For example, in adulthood, it is possible to establish signs of mycovisciosis when examining the reproductive system to determine the causes of male infertility. In this case, the inability to have children is just a concomitant violation. And the main reason should be considered precisely cystic fibrosis.

This genetic disease causes a man the so-called azoospermia, that is, the complete absence of male germ cells in the secreted seminal fluid. Cystic fibrosis, as it turned out during medical research, affects the ejaculatory cord, reducing its size and damaging the surrounding tissue.

By the way, problems with sexual function can sometimes be present in patients who are only carriers of the mutated gene.

In women of reproductive age, pathology causes a decrease in the ability to give birth to children, which is due to an increase in the viscosity of mucus in the cervical canal of the cervix. This does not allow spermatozoa to enter the cavity of the main reproductive organ of a woman and fertilize the egg there.

Symptoms of pulmonary cystic fibrosis

Consider in more detail the respiratory form of the pathology.

Initially, a patient who has a paired cystic fibrosis gene experiences general weakness and apathy, and the skin becomes pale in color. The patient begins to lose weight dramatically, despite the large amount of food consumed.

In a severe form of the disease, from the first days after birth, a person begins to suffer a small cough, the nature of which increases over time. These symptoms in their external manifestations resemble whooping cough.

Then sputum appears, which has a very thick consistency. In the event of the appearance of an additional pathogenic microflora (for example, staphylococcus, which was mentioned in the previous sections), the mucus becomes purulent.

The intrapulmonary secretion secreted by the bronchi, acquiring a more viscous than necessary consistency, becomes the cause of airway obstruction. In especially severe cases, collapse of any part of the lung is possible, that is, the occurrence of the so-called atelectasis.

The course of pulmonary cystic fibrosis in infants may differ in lesions of the alveolar air sacs, which provide an exchange of oxygen and carbon dioxide molecules between the lungs and air.

Pneumonia with cystic fibrosis

The disease often leads to the appearance of a severe form of pneumonia, during which purulent inflammation of the internal lung tissue and the formation of purulent cavities in this organ often occur. Pneumonia caused by cystic fibrosis is only bilateral.

A certain number of patients sometimes show signs of toxicosis. This painful condition is caused by exposure to various internal toxins and other external factors. The clinical picture under consideration in some cases leads to a shock state of the patient.

Pulmonary cystic fibrosis is accompanied by violations of the following body systems:

nervous
respiratory
blood circulation;
metabolic processes.

Pneumonia resulting from the described genetic disorder becomes chronic and transforms into the so-called pneumosclerosis. This term refers to a pathological process during which an abnormal growth of connective tissue in the lungs occurs, which causes a loss of elasticity in the epithelial layer and a violation of the gas exchange process.

In addition to pneumosclerosis, bronchiectasis can be diagnosed, that is, an increase in the size of the bronchi, accompanied by a change in their cellular structure and thickening of the walls.

Occasionally, a syndrome of "pulmonary heart" occurs, that is, an increase in the right heart due to an increase in blood pressure in the pulmonary circulation, which was caused by prolonged pneumonia and the pathologies accompanying this process.

The external symptoms of cystic fibrosis are as follows. The skin of the patient becomes brown. Visible mucous membranes of the body and fingertips on the upper and lower extremities become cyanotic.

The patient suffers from shortness of breath, even when at rest, the chest becomes like a barrel. The last phalanges of the fingers expand in a characteristic way, which clearly indicates cystic fibrosis. You can find photos of the so-called “Hippocratic fingers” in medical directories. A person begins to move a little, while his body weight drops rapidly, despite the large amount of food consumed.

Symptoms of intestinal cystic fibrosis

The disease causes a violation of the proper functioning of the gastrointestinal tract of the human body due to improper functioning of the endocrine glands.

Very often, this form of cystic fibrosis is diagnosed when a newborn baby is transferred to partial or complete artificial feeding. Dysfunction of the stomach and intestines leads to the fact that food entering the body does not break down into its constituent parts (proteins, fats, carbohydrates) and, accordingly, are not absorbed into the circulatory system.

The presence in the intestine of a large amount of undigested food contributes to the occurrence of rotting processes. This, in turn, causes the formation of toxins:

hydrogen sulfide;
ammonia;
primary and secondary amines.

In addition, due to the accumulation of a large amount of internal gases in the gastrointestinal tract, many patients with cystic fibrosis complain of bloating.

The described negative processes require more frequent visits to the toilet. Sometimes it may even come down to polyphecalism - that is, abnormally frequent visits to the toilet for bowel movements. Sometimes this need arises 4, or even 8 times more often than a normal healthy person.

Considered pathology can lead to prolapse of the rectum. This disorder occurs in approximately 20% of patients with intestinal cystic fibrosis.

Treatment

There is currently no cure for the symptoms of cystic fibrosis. Usually, doctors use the so-called symptomatic therapy.

For example, medications can be used to restore the proper functioning of the gastrointestinal tract or respiratory system. In especially complex cases, more serious therapeutic measures are used.

Violations of the digestive organs require the patient to follow a diet, which helps prevent rectal prolapse. In addition, you should carefully monitor the correct balance in food proteins, fats and carbohydrates.

It should be noted that the key to successful treatment of symptoms of cystic fibrosis is its timely diagnosis. Otherwise, death is possible. Especially for patients whose age has not reached 1 year.

Conclusion

Cystic fibrosis is a genetic disease that occurs in a newborn only when the latter received two mutated genes from his parents.

This pathology causes negative processes in many organs and requires constant attention and various measures aimed at treating the symptoms that arise. For example, a pulmonary form of cystic fibrosis requires drug therapy aimed at combating the resulting pneumonia. And the appearance of the digestive tract - diet and control of permanent microflora.

Otherwise, the onset of very serious complications, and sometimes death.

You should not neglect your health.

The cough is so strong that it causes a person to gag. In adult patients, the cough is constant, as it takes a chronic form.

The main symptoms also include:

earthy or pale skin color;
lethargy;
with good appetite, weight loss;
the structure of the chest changes. It resembles the shape of a barrel. Her curvature occurs;
possible paralysis of the heart muscle;
shortness of breath is observed even at rest;
collapse of the lungs is possible;
pneumothorax develops;
finger phalanges are deformed.

With a long course of the disease, the nasopharynx is damaged, as a result of this, the patient also has such pathologies as:

the appearance of adenoids;
polyps form in the nasopharynx;
tonsillitis and sinusitis are diagnosed.

Intestinal symptoms

With this type of cystic fibrosis in patients appear:

pyelonephritis and an ulcer develops;
the patient suffers from bowel obstruction.

Mucus provokes formation putrefactive processes. The patient has:

emptying becomes very frequent;
increased dryness appears in the mouth;
pains appear on the right side of the abdomen;
decreased muscle tone of the abdomen;
jaundice;
due to severe depletion, polyhypovitaminosis appears.

With complications, biliary cirrhosis is diagnosed.

Mixed symptoms

This form is characterized by a severe course of the disease. There are both pulmonary and intestinal symptoms. With mixed cystic fibrosis exists 4 degrees of the disease.

If the patient has a disease of 10 years, a dry cough is observed, in which sputum production does not occur. Shortness of breath can only be after exertion.
With the course of the disease up to 15 years, chronic bronchitis with a strong cough and sputum production is characteristic. In humans, the finger phalanges are deformed.
If the duration of the disease is 3-5 years, the patient is diagnosed with heart and pulmonary failure. They are characterized by a severe form of the course for several months. Treatment of these processes is impossible, so the disease ends in death.

Important! All symptoms are characterized by pathological changes in the internal organs.

Diagnostic Methods

Diagnostic measures for detecting cystic fibrosis in a person are quite extensive, since pathological changes occur not only in the respiratory system, but also in other internal organs. The most important are the following diagnostic measures:

Coprological analysis, which allows the doctor to determine the amount of fat, elastase and muscle fibers in a patient.
A genetic study is carried out to identify mutable DNA in the body. They cause cystic fibrosis in humans.
Be sure the patient passes a general analysis of urine and blood.
An analysis is performed that reveals glucose tolerance in a patient.
Be sure to visit the ENT doctor.
Using ultrasound, the patient is scanned for the abdomen.
To evaluate the effectiveness of drug treatment, the doctor studies the functioning of the lungs, their capacity and bronchial conduction. Therefore, spirometry is one of the important diagnostic procedures.
If the patient has a pulmonary or mixed form of the disease, bronchoscopy is performed, which allows the specialist to study the consistency of sputum.
With the help of microbiological studies, the composition of sputum is studied.
An important place in the diagnosis is bronchography, with which the doctor can detect bronchiectasis in a patient.
A chest x-ray is prescribed to reveal pathological changes that have occurred in the lungs and bronchi.
A biochemical blood test is prescribed to identify enzymes in the liver and pancreas.
The patient is tested for blood sugar.
Spend a coprogram, which will reveal the amount of fat in the feces.
To detect changes in the heart, electrocardiography is prescribed.
The doctor takes measurements of weight and height in the patient.
External respiration is being studied.
The patient is also shown fibrogastroduodenoscopy.

Treatment

Since the disease is incurable and leads to the death of the patient, the doctor’s task is to select effective medications drugs that increase life expectancy and improve as much as possible its quality in patients. Therefore, the specialist selects for each patient certain drugs that are aimed at:

decrease in sputum and its viscosity;
to cleanse the bronchi and lungs;
to prevent infections in the respiratory system;
on the positive adaptation of the patient due to psychoemotional factors;
for proper nutrition.

Important! Treatment is carried out strictly under the supervision of a physician.

The patient is taught breathing exercises, which will contribute to the discharge of viscous mucus.
Be sure to prescribe mucolytic drugs. The most effective is the ACC.
If infectious diseases are detected, antibiotic therapy is prescribed.
If cirrhosis of the liver, acute infections and allergic reactions are observed, corticosteroids, as well as Gepral and similar drugs, are prescribed.
The patient should undergo oxygen therapy.

In case of violations of the pancreas, it is necessary to drink one of the drugs:

Pancytrate;
Creon
Pancrease

Important! The patient should take these medicines all his life.

Be sure to carry out the removal of polyps in the nose and adenoids.
If diabetes is detected, the doctor prescribes insulin. It is also very important to follow such a sick diet.
It is necessary to drink vitamins A, K, E and multivitamins regularly.
The patient is prescribed antihistamines, as well as antifungals: Chevorin, Nystatin.
To reduce pulmonary hypertension, aminophylline is indicated.
To improve myocardial function, cocarboxylase, potassium orotate are prescribed.
When diagnosing a pulmonary heart, the patient should drink Digoxin and glucocorticoids.

Properly selected treatment gives the patient a chance to live longer for 10-15 years. Earlier, mortality in cystic fibrosis was 15–16 years, but now life expectancy is 31–34 years.

- a severe congenital disease, manifested by tissue damage and impaired secretory activity of exocrine glands, as well as functional disorders, primarily from the respiratory and digestive systems. Separately, the pulmonary form of cystic fibrosis is isolated. In addition to it, there are intestinal, mixed, atypical forms and meconium bowel obstruction. Pulmonary cystic fibrosis manifests itself in childhood as a paroxysmal cough with thick sputum, obstructive syndrome, repeated protracted bronchitis and pneumonia, a progressive respiratory disorder leading to chest deformity and signs of chronic hypoxia. The diagnosis is made according to anamnesis, radiography of the lungs, bronchoscopy and bronchography, spirometry, molecular genetic testing.

ICD-10

E84 Cystic fibrosis

General information

- a severe congenital disease, manifested by tissue damage and impaired secretory activity of exocrine glands, as well as functional disorders, primarily from the respiratory and digestive systems.

Changes in cystic fibrosis affect the pancreas, liver, sweat, salivary glands, intestines, bronchopulmonary system. The disease is hereditary, with autosomal recessive inheritance (from both parents carrying the mutant gene). Disorders in organs in cystic fibrosis occur already in the prenatal phase of development, and progressively increase with age. The earlier cystic fibrosis is manifested, the more severe the course of the disease, and the more serious its prognosis can be. Due to the chronic course of the pathological process, patients with cystic fibrosis need constant treatment and specialist supervision.

Causes and mechanism of development of cystic fibrosis

The leading factors in the development of cystic fibrosis are three main points: damage to the endocrine glands, changes in the connective tissue, and water-electrolyte disturbances. The cause of cystic fibrosis is a gene mutation, as a result of which the structure and functions of the MVTR protein (transmembrane cystic fibrosis regulator) involved in the water-electrolyte metabolism of the epithelium lining the bronchopulmonary system, pancreas, liver, gastrointestinal tract, and organs of the reproductive system are disturbed.

With cystic fibrosis, the physicochemical properties of the secretion of exocrine glands (mucus, lacrimal fluid, sweat) change: it becomes thick, with a high content of electrolytes and protein, practically does not evacuate from the excretory ducts. Delay of viscous secretion in the ducts causes their expansion and the formation of small cysts, most bronchopulmonary and digestive systems.

Electrolyte disturbances are associated with a high concentration of calcium, sodium and chlorine in secrets. Stagnation of mucus leads to atrophy (drying out) of glandular tissue and progressive fibrosis (gradual replacement of the gland tissue with connective tissue), the early appearance of sclerotic changes in organs. Complicating the situation is the development of purulent inflammation in case of secondary infection.

The defeat of the bronchopulmonary system in cystic fibrosis occurs due to difficulty in sputum discharge (viscous mucus, dysfunction of the ciliated epithelium), the development of mucostasis (stagnation of mucus) and chronic inflammation. Violation of patency of small bronchi and bronchioles is the basis of pathological changes in the respiratory system in cystic fibrosis. Bronchial glands with mucopurulent contents, increasing in size, protrude and overlap the lumen of the bronchi. The saccular, cylindrical and “drop-shaped” bronchiectases are formed, emphysematous sections of the lung are formed, with complete obstruction of the bronchi with sputum - atelectasis zones, sclerotic changes in lung tissue (diffuse pneumosclerosis).

With cystic fibrosis, pathological changes in the bronchi and lungs are complicated by the addition of a bacterial infection (Staphylococcus aureus, Pseudomonas aeruginosa), abscess formation (lung abscess), and the development of destructive changes. This is due to violations in the local immunity system (decrease in the level of antibodies, interferon, phagocytic activity, a change in the functional state of the bronchial epithelium).

In addition to the bronchopulmonary system with cystic fibrosis, damage to the stomach, intestines, pancreas, and liver is noted.

Clinical forms of cystic fibrosis

Cystic fibrosis is characterized by a variety of manifestations, which depend on the severity of changes in various organs (glands of external secretion), the presence of complications, and the age of the patient. The following forms of cystic fibrosis are found:

pulmonary (cystic fibrosis of the lungs);
intestinal;
mixed (both the respiratory system and the digestive tract are affected);
meconium bowel obstruction;
atypical forms associated with isolated lesions of individual glands of external secretion (cirrhotic, edematous - anemic), as well as erased forms.

The division of cystic fibrosis into forms is conditional, since with a predominant lesion of the respiratory tract, digestive disorders are also observed, and with the intestinal form, changes from the bronchopulmonary system develop.

The main risk factor in the development of cystic fibrosis is heredity (transmission of a defect in the MBTR protein - cystic fibrosis transmembrane regulator). The initial manifestations of cystic fibrosis are usually observed in the earliest period of a child's life: in 70% of cases, detection occurs in the first 2 years of life, at an older age much less often.

Pulmonary (respiratory) form of cystic fibrosis

The respiratory form of cystic fibrosis manifests itself at an early age and is characterized by pallor of the skin, lethargy, weakness, small weight gain with normal appetite, and frequent SARS. Children have a constant paroxysmal, pertussis-like cough with thick mucous - purulent sputum, repeated protracted (always bilateral) pneumonia and bronchitis, with severe obstructive syndrome. Breathing is harsh, dry and wet rales are heard, with bronchial obstruction - dry wheezing. There is a chance of developing infectious-dependent bronchial asthma.

Respiratory dysfunctions can progress steadily, causing frequent exacerbations, an increase in hypoxia, symptoms of pulmonary (dyspnea at rest, cyanosis) and heart failure (tachycardia, "pulmonary heart", edema). There is a deformation of the chest (keeled, barrel-shaped or funnel-shaped), a change in the nails in the form of watch glasses and end phalanges of the fingers in the shape of drumsticks. With a long course of cystic fibrosis in children, inflammation of the nasopharynx is detected: chronic sinusitis, tonsillitis, polyps and adenoids. With significant violations of the function of external respiration, a shift in acid-base balance is observed towards acidosis.

If pulmonary symptoms are combined with extrapulmonary manifestations, then they speak of a mixed form of cystic fibrosis. It is characterized by a severe course, is more common than others, combines pulmonary and intestinal symptoms of the disease. From the first days of life, severe repeated pneumonia and protracted bronchitis are observed, persistent cough, digestive upset.

The criterion for the severity of the course of cystic fibrosis is considered to be the nature and degree of damage to the respiratory tract. In connection with this criterion for cystic fibrosis, four stages of damage to the respiratory system are distinguished:

I stage characterized by intermittent functional changes: dry cough without sputum, minor or moderate shortness of breath during physical exertion.
II stage It is associated with the development of chronic bronchitis and manifests itself as a cough with sputum, moderate shortness of breath, aggravated by exertion, deformation of the phalanges of the fingers, moist rales, which are heard against the backdrop of hard breathing.
III stage is associated with the progression of lesions of the bronchopulmonary system and the development of complications (limited pneumosclerosis and diffuse pneumofibrosis, cysts, bronchiectasis, severe respiratory and heart failure according to the right ventricular type ("pulmonary heart").
IV stage characterized by severe cardiopulmonary failure, leading to death.

Cystic Fibrosis Complications

Diagnosis of cystic fibrosis

A timely diagnosis of cystic fibrosis is very important in terms of predicting the life of a sick child. The pulmonary form of cystic fibrosis is differentiated with obstructive bronchitis, whooping cough, chronic pneumonia of a different genesis, bronchial asthma; intestinal form - with intestinal absorption disorders that occur with celiac disease, enteropathy, intestinal dysbiosis, disaccharidase deficiency.

The diagnosis of cystic fibrosis includes:

The study of family history, early signs of the disease, clinical manifestations;
General analysis of blood and urine;
Coprogram - a study of feces for the presence and content of fat, fiber, muscle fibers, starch (determines the degree of enzymatic disorders of the glands of the digestive tract);
Microbiological examination of sputum;
Bronchography (detects the presence of characteristic "drop-shaped" bronchiectasis, bronchial malformations)
Bronchoscopy (reveals the presence in the bronchi of thick and viscous sputum in the form of threads);
X-ray of the lungs (reveals infiltrative and sclerotic changes in the bronchi and lungs);
Spirometry (determines the functional state of the lungs by measuring the volume and speed of exhaled air);
Sweat test - a study of sweat electrolytes - the main and most informative analysis for cystic fibrosis (allows you to identify a high content of chlorine and sodium ions in the sweat of a patient with cystic fibrosis);
Molecular genetic testing (analysis of blood or DNA samples for the presence of mutations in the cystic fibrosis gene);
Prenatal diagnosis - examination of newborns for genetic and congenital diseases.

Cystic fibrosis treatment

Since cystic fibrosis, as a hereditary disease, cannot be avoided, timely diagnosis and compensatory therapy are of paramount importance. The earlier adequate treatment for cystic fibrosis is started, the more likely a sick child will survive.

Intensive therapy for cystic fibrosis is carried out for patients with respiratory failure of the II-III degree, lung destruction, decompensation of the "pulmonary heart", hemoptysis. Surgical intervention is indicated for severe forms of intestinal obstruction, suspected peritonitis, pulmonary hemorrhage.

The treatment of cystic fibrosis is mostly symptomatic, aimed at restoring the functions of the respiratory and gastrointestinal tract, is carried out throughout the patient's life. With the predominance of the intestinal form of cystic fibrosis, a diet with a high content of proteins (meat, fish, cottage cheese, eggs), with a restriction of carbohydrates and fats (only easily digestible), is prescribed. Coarse fiber is excluded, with lactase deficiency - milk. It is always necessary to add salt to food, consume an increased amount of liquid (especially in the hot season), take vitamins.

Substitution therapy for the intestinal form of cystic fibrosis includes the use of drugs containing digestive enzymes: pancreatin and others (the dosage depends on the severity of the lesion, it is prescribed individually). The effectiveness of treatment is judged by the normalization of stool, the disappearance of pain, the absence of neutral fat in the feces, the normalization of weight. Acetylcysteine \u200b\u200bis prescribed to reduce the viscosity of digestive secretions and improve their outflow.

Treatment of pulmonary cystic fibrosis is aimed at reducing the expectoration of sputum and restoring patency of the bronchi, eliminating the infectious and inflammatory process. Mucolytic agents (acetylcysteine) are prescribed in the form of aerosols or inhalations, sometimes inhalations with enzyme preparations (chymotrypsin, fibrinolysin) daily throughout life. In parallel with physiotherapy, physiotherapy exercises, vibration massage of the chest, positional (postural) drainage are used. For therapeutic purposes, bronchoscopic sanitation of the bronchial tree is carried out using mucolytic agents (bronchoalveolar lavage).

In the presence of acute manifestations of pneumonia, bronchitis, antibiotic therapy is performed. They also use metabolic drugs that improve myocardial nutrition: cocarboxylase, potassium orotate, glucocorticoids, cardiac glycosides are used.

Patients with cystic fibrosis are subject to follow-up by a pulmonologist and a local therapist. Relatives or parents of the child are trained in vibration massage techniques, patient care rules. The issue of prophylactic vaccinations for children suffering from cystic fibrosis is decided individually.

Children with mild forms of cystic fibrosis receive spa treatment. The presence of children with cystic fibrosis in preschools is better to exclude. The possibility of attending school depends on the condition of the child, but he is determined by an additional day of rest during the school week, time for treatment and examination, exemption from examination tests.

Prediction and prevention of cystic fibrosis

The prognosis of cystic fibrosis is extremely serious and is determined by the severity of the disease (especially pulmonary syndrome), the time of onset of the first symptoms, timely diagnosis, and the adequacy of treatment. A large percentage of deaths is observed (especially in sick children of the 1st year of life). The earlier a child is diagnosed with cystic fibrosis, targeted therapy is started, the more likely a favorable course is. In recent years, the average life expectancy of patients suffering from cystic fibrosis has increased and in developed countries is 40 years.