Symptoms of cystic fibrosis may include the following. Cystic fibrosis symptoms, causes and treatment

Cystic fibrosis (cystic fibrosis) is a common and potentially fatal hereditary disease. It became possible to diagnose it only in the second half of the XX century. Prior to this, most patients with cystic fibrosis died in infancy from concomitant diseases.

Cystic fibrosis (cystic fibrosis) is a systemic hereditary disease caused by a gene mutation that affects cellular salt metabolism. The result is an increased amount of thick, viscous mucus that clogs the ducts. Cystic fibrosis affects all mucus-forming organs - lungs, bronchi, liver, intestinal glands, pancreas, sweat, sex and salivary glands.

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Who suffers from cystic fibrosis

Cystic fibrosis occurs throughout the world, mainly in representatives of the Caucasian race, but individual cases of the disease have been recorded among representatives of all races.

The incidence of the disease is the same for both sexes. The gene that causes the disease has a recessive inheritance pattern, so a sick child is born only when both the mother and the father are carriers of the mutated gene. The frequency of birth of a child with cystic fibrosis in this case is 25 % ... Carriers of the genetic mutation (and their number exceeds 5% of the entire population of the Earth) show no signs of the disease.

Now in Russia, more than 1,500 patients with cystic fibrosis have been recorded. The number of unrecorded cases exceeds 15 thousand people.

How does the disease develop

In cystic fibrosis, the viscous mucus produced by the bronchi accumulates and clogs the small bronchi, leading to impaired ventilation and blood supply to the lungs. Respiratory failure that occurs is the most common cause of death in cystic fibrosis.

The accumulations of mucus are easily infected by pathogenic microbes, leading to severe, irreversible changes in the lungs and their destruction.

The affected pancreas (in 80% of cases) leads to disruption of the digestive tract due to a lack of digestive enzymes. As a result of the blockage of the ducts, cysts are formed. Stagnation of bile leads to cirrhosis of the liver, gallstones. Diabetes mellitus often develops. Affected sweat glands remove excess salt from the body through sweat.

Currently, 96% of cases of cystic fibrosis are diagnosed in children under two years of age. For the rest, the diagnosis is made at an older age.

The reason for the appearance of cystic fibrosis in children

The only cause of cystic fibrosis is that a child receives a mutated CFTR gene from both parents at the time of conception.

This gene is responsible for the production of a protein that regulates the transport of sodium and chlorine ions across the cell membrane.

The main symptoms

Depending on the nature of the disease, signs of cystic fibrosis can appear both immediately after birth and at a later age. The most common symptoms are:

• The skin is slightly salty;
• body weight - reduced, thinness below normal, even with excellent appetite;
• disrupted bowel function - chronic diarrhea (often foul-smelling), high fat content in feces;
• breathing - wheezing, with a whistle;
• cough - paroxysmal, painful, with a large amount of sputum;
• frequent pneumonia;
• "Drumsticks" - thickening of the fingertips, often with misshapen nails;
• polyps in the nose - as a result of the proliferation of the mucous membrane of the cavity and sinuses;
• rectal prolapse - recurrent rectal prolapse.

Types and forms of the disease

Depending on which organs are mainly affected, the forms of the disease are distinguished:

• Pulmonary - about 20% of cases. It is accompanied by severe bilateral pneumonia with abscesses, then pulmonary and heart failure develops;
• intestinal - occurs in 5% of patients. Leads to the formation of intestinal ulcers, intestinal obstruction, diabetes mellitus, urolithiasis, enlargement and cirrhosis of the liver;
• mixed - the most common pulmonary-intestinal form (about 80% of cases). Combines signs of pulmonary and intestinal forms.

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Diagnostic methods

To establish a diagnosis, a medical history, clinical examination and special laboratory tests are required:

Sweat test and DNA research can reliably differentiate cystic fibrosis from the following diseases:

• whooping cough;
• bronchiectasis;
• renal diabetes insipidus;
• glycogenic disease;
• hereditary ectodermal dysplasia.

Methods for treating cystic fibrosis

Today, cystic fibrosis is incurable. Treatment now is only symptomatic, aimed at improving the patient's well-being and alleviating clinical manifestations.

Treatment is carried out continuously, throughout life. Early diagnosis of the disease, immediately started treatment will significantly facilitate and prolong the patient's life.

Diet

Patients with cystic fibrosis urgently need a properly selected diet:

• Increased calorie content of food - should be 20-30% higher than the age norm (increase the amount of protein);
• restriction of fat;
• salt - a must, especially in hot weather;
• liquid - constantly, in sufficient quantity;
• vitamin-containing products are required every day (fruits, vegetables, natural juices, butter).

Treatment with drugs

• Mucolytics - thinning mucus and helping to remove it (Ambroxol, Pulmozyme, Acetylcysteine). They are used mainly in the form of inhalation;
• antibiotics - for infections of the respiratory system (Gentamicin, Tsiprobay, Tienam, Tobramycin, Tazicef). They are used in the form of injections, tablets, inhalations;
• enzymes - to compensate for the insufficiency of the pancreas (Polysim, Pancitrat, Pancreatin, Creon, Mexaza);
• vitamins - they are prescribed constantly due to poor absorption and increased need, especially fat-soluble vitamins (solutions of vitamins A, D, E in a double dose);
• hepatoprotectors - for liver damage (ursofalk, ursosan);
• kinesitherapy - daily special exercises and breathing exercises;
• oxygen concentrator - for severe exacerbations of the disease;
• organ transplant - to prolong life with severe damage to the lungs, liver, heart. Complex and expensive surgeries that prolong life, but do not cure disease.

Physiotherapy

Physiotherapy is aimed at improving the functioning of the bronchi, is carried out daily:

• Postural drainage - active rhythmic tapping with a folded palm on the ribs in certain areas. Used at any age;
• autogenous drainage - based on independent special breathing. Slow inhalation through the nose - holding the breath - the maximum possible active exhalation;
• PEP mask - allows you to create different pressure on the exhale when using special nozzles;
• flutter is a simulator that allows you to create, along with resistance on exhalation, vibrations that pass to the bronchi and contribute to the separation of sputum.

Preventive actions

The genetic nature of the disease makes it difficult to prevent it.

Primary

• Mass dissemination of information about the disease;
• DNA testing of couples about to give birth to a mutated gene;
• perinatal diagnostics - makes it possible to prevent the birth of a sick child.

Secondary

• Monitoring the patient's condition is constant;
• monthly medical examination;
• permanent treatment according to the course of the disease

Forecast

Currently, the prognosis is still unfavorable. The lethal outcome is observed in more than half of the cases. Life expectancy with cystic fibrosis in Europe is about 40 years, in the USA and Canada - about 50, in Russia - less than 30.

Currently, there are no reliable methods of cure for this disease; the average life expectancy of patients is no more than 40 years.

People diagnosed with cystic fibrosis only suffer physically. Mentally they are absolutely full-fledged, among them there are many talented, intellectually developed, gifted people. Having reached adulthood, they can create families, and even be parents of clinically healthy children - in the absence of a damaged gene in a spouse.

If you have cystic fibrosis, do not despair. Seek help from a pulmonologist and gastroenterologist. If necessary, a nutritionist, physiotherapist, endocrinologist, cardiologist, psychologist and other specialists are involved in treatment.

Hereditary diseases are very difficult to diagnose. Everything about the symptoms and stages of development of a genetic disease - cystic fibrosis.

Cystic fibrosis is a hereditary disorder that usually appears in the first 2 years of a child's life 1. Cystic fibrosis affects almost all organs that secrete mucus: lungs, liver, pancreas, intestines. The secreted secretions become thick, accumulate in the bronchi and glandular ducts, which leads to the formation of cysts (neoplasms in the form of cavities filled with liquid or air), therefore the disease is sometimes called cystic fibrosis 2,3.

Symptoms of cystic fibrosis

Specialists distinguish several forms of the disease: intestinal, pulmonary and mixed.

The main symptoms of the disease are usually:

• lack of appetite, screaming and loud crying in infants and newborns;
• bloating;
• feeling of dry mouth.

The symptoms of cystic fibrosis depend on the form of the disease. Cystic fibrosis of the lungs greatly reduces immunity, and since the mucous plugs are easily affected by the bacteria of staphylococcus or Pseudomonas aeruginosa, people constantly suffer from recurrent bronchitis and pneumonia.

The main signs of cystic fibrosis of the lungs 3:

• frequent respiratory viral diseases;
• persistent paroxysmal cough with thick and poorly separated sputum;
• tendency to pneumonia and bronchitis against the background of acute respiratory viral infections;
• hard breathing, the appearance of wheezing wheezing with colds and viral diseases;
• the appearance of shortness of breath, signs of hypoxia;
• weight loss, vitamin deficiency;
• a change in the shape of the chest, which takes the form of a boat keel, may become barrel-shaped;
• nail plates, fingertips take the form of drumsticks.

The intestinal form of cystic fibrosis is characterized by enzyme deficiency, impaired absorption of nutrients in the intestine. As a result of a lack of enzymes, the stool becomes "fatty", bacteria can actively multiply, resulting in the accumulation of gases, which leads to severe flatulence. Stool becomes more frequent, and the volume of feces can be several times higher than the age norm.

In children, the intestinal form of cystic fibrosis proceeds with increased viscosity of saliva and severe thirst. Appetite can be reduced due to indigestion, persistent abdominal pain and flatulence 3. From the first days of life, a child may suffer from intestinal obstruction, which is caused by a lack of the enzyme trypsin, which is responsible for the breakdown of proteins. As a result, meconium accumulates in the small intestine - a dense, dense mass of dark brown color. The child develops constipation and frequent regurgitation, vomiting may occur. In addition to symptoms from the gastrointestinal tract (GIT), the disease can affect the general condition of the body, since quality nutrition has a direct impact on the development of the child. Due to the lack of nutrients, weakness, brittle bones may appear, the condition of the skin, nails, hair may worsen.

The mixed form of the disease is characterized by a combination of intestinal and bronchopulmonary lesions. This is also manifested in symptoms: people with a mixed form of cystic fibrosis suffer from frequent viral diseases, prolonged coughing and at the same time from indigestion, flatulence.

Regardless of the form of the disease, one of the common symptoms of cystic fibrosis is the salty taste of the patient's skin. This is due to increased levels of chloride in sweat and has long been a key diagnostic finding.

Causes of cystic fibrosis

The main cause of cystic fibrosis is a hereditary pathology that occurs as a result of a gene mutation - a transmembrane regulator of cystic fibrosis. This gene is involved in the exchange of epithelial tissues lining the digestive tract, liver, pancreas, reproductive and bronchopulmonary organs. A gene mutation leads to a disruption in the structure of the synthesized protein, it becomes viscous and thick. Due to stagnation of mucus and an increase in the level of chlorine and sodium in it, the epithelium of the glands begins to decrease in size, to be replaced by connective tissue.

The accumulation of mucus creates favorable conditions for the reproduction of conditionally pathogenic flora, therefore, the risk of purulent complications and concomitant diseases increases sharply. With cystic fibrosis in adults, reproductive function is significantly affected.

Diagnosis of cystic fibrosis

To diagnose cystic fibrosis, both laboratory and genetic tests may be needed. Genetic studies are highly informative and make it possible to suspect the development of the disease almost immediately after birth. At the moment, the disease can be detected even before the birth of a child with neonatal screening.

In order to speak with confidence about the presence of cystic fibrosis in a person, the doctor must diagnose the following indicators 1.2:

• the presence of bronchial defects or the presence of thick and viscous sputum in the bronchi;
• positive sweat test results;
• the presence of enzyme deficiency of the pancreas;
• cases of cystic fibrosis in the family.

Treatment of cystic fibrosis

To date, it is impossible to completely cure cystic fibrosis. Modern medicine can only mitigate the manifestation of the disease and increase the duration and quality of the patient's life.

Treatment of cystic fibrosis should be comprehensive and aimed at the main symptoms of the disease: combating infectious diseases, cleansing the bronchi from phlegm, replenishing the missing pancreatic enzymes 3,4.

Part of the therapy must necessarily be aimed at supporting the bronchopulmonary system, preventing complications from recurrent bronchitis and pneumonia. With the development of infectious diseases, antibiotic treatment is indicated. Be sure to use methods and means that contribute to the liquefaction of sputum and its free removal from the bronchi and lungs. Mucolytics - drugs that thin phlegm are used for long courses, taking short breaks.

In the intestinal form of cystic fibrosis, the key task is to restore disturbed digestion. As we have already found out, the pancreas, which responds to the production of enzymes, practically does not work in a patient with cystic fibrosis. This means that the child is unable to obtain energy from food. That is why the intake of enzyme preparations for such patients is key and in many respects determining the life expectancy. Just think how long you can exist without quality food? The dosage is selected individually, depending on the condition and body weight of the child. Digestive enzymes compensate for the insufficient secretory activity of the pancreas, helping to support digestion by delivering enzymes from the outside.

The diet for cystic fibrosis is not a temporary restriction, but a lifelong diet. The human diet should have a large amount of protein obtained from lean meat, quality fish, cottage cheese and eggs. It is desirable that the diet is high in calories, but it is necessary to limit the amount of incoming animal fats, trans fats and coarse fiber that irritate the inflamed walls of the gastrointestinal tract.

With the development of lactose intolerance, milk is excluded from the diet. Due to the dryness of the mucous membranes and the violation of mucus secretion, an increased drinking regime is recommended, especially in the hot months.

With cystic fibrosis, physiotherapy is very useful: vibration massage, aerosol inhalations, physiotherapy exercises can improve the patient's condition and prevent the development of complications.

Creon® drug for cystic fibrosis

Creon ® is an enzyme preparation specially designed to support digestion and is widely used in cystic fibrosis 4. Creon ® is the only drug whose capsule contains hundreds of small particles - minimicrospheres 6. Their size does not exceed 2 mm, which is recorded as recommended in world and Russian scientific works 7.8. The small particle size allows Creon ® to recreate the digestion process as it was intended in the body, and thus to cope with unpleasant symptoms. Thanks to the minimicrospheres, Creon ® mixes evenly with food in the stomach and simultaneously with each portion of it enters the intestines, where the key stage of digestion and absorption of nutrients is already taking place 8. Creon ® is allowed for children from birth, its capsules are easy to use: if necessary, they can be opened and the minimicrospheres can be mixed with food or juice, choosing an individual dose 8.

Also in the Creon ® line there is a special form - released specifically for the treatment of children with cystic fibrosis. The minimicrospheres are placed in a bottle in bulk; the set includes a measuring spoon, which allows you to conveniently pour the required amount of the drug 5.

1. Difficulties and new opportunities in the diagnosis of cystic fibrosis in children // Maksimova SM, Samoilenko IG, Lenart TV, Maksimova NV, Shapovalova AS. Child health. 2012. No. 5. S. 80-84.

2. Cystic fibrosis today: achievements and problems, prospects of etiopathogenetic therapy // Gembitskaya T., Chermensky A., Boytsova E. Doctor. 2012. No. 2. P.5.

3. Kondratieva E.I., Kashirskaya N.Yu., Roslavtseva E.A. Review of the national consensus “Cystic fibrosis: definition, diagnostic criteria, therapy” for nutritionists and gastroenterologists. Questions of Pediatric Dietetics, 2018, Volume 16, No. 1, p. 58-74.

4. Comparison of the efficacy and safety of the drugs "Hermital" and "Creon" in equivalent doses in patients with cystic fibrosis with insufficiency of exocrine pancreatic function // Asherova I.K., Kashirskaya N.Yu., Kapranov N.I. Bulletin of new medical technologies. 2012.T. XIX. No. 2. S. 94-96.

5. Instructions for medical use of the drug Creon® 10000, enteric capsules, dated 05/11/2018.

6. The only medicinal product of pancreatin in the form of minimicrospheres, registered in the territory of the Russian Federation, according to the State Register of Medicines as of 14.10.2019.

7. Ivashkin V.T., Mayev I.V., Okhlobystin A.V. et al. Recommendations of the Russian Gastroenterological Association for the diagnosis and treatment of EPI. REGGK, 2018; 28 (2): 72-100.

8. Lohr Johannes-Matthias, et. al. Properties of different pancreatin preparations used in pancreatic exocrine insufficiency. Eur J Gastroenterol Hepatol. 2009; 21 (9): 1024-31.

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

general description

Cystic fibrosis (CF) as a given definition of current pathology is used in Europe (and, in fact, in our country), while in Canada, Australia, the USA and in other countries it is defined as "cystic fibrosis of the pancreas", and namely in this version, the features of its morphological manifestations are revealed to the greatest extent. It should be noted that this disease is quite common, as evidenced by the rates of its occurrence. So, only for newborns on the scale of European countries, a ratio of 1: 2500 is determined, which, in turn, indicates that at least four have chances to get cystic fibrosis per 10,000 newborns.

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

Children get sick when they receive one mutant gene from each parent. If only one such gene is inherited, then in this case its carriage (“CF carriers”) is considered, in which the pathologies corresponding to the disease are not diagnosed. Given that the genes that each person has are paired, each of us, respectively, is a carrier of two copies of each of the genes (again, one gene from the mother, one from the father). Certain genes are deprived of the possibility of normal functioning if their structure is disturbed. With such a violation in the structure, the gene is changed. Therefore, in order for cystic fibrosis to develop (as, in fact, many other genetic diseases), it is necessary to obtain, as noted in the original example, two changed genes. When a parent carries CF, any child of a couple has a 25% chance of receiving altered genes from each of them.

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

Features of the course of cystic fibrosis

The features of the pathogenesis (the mechanism causing the onset of the disease) are not fully defined. Cystic fibrosis manifests itself due to the secretion of a secret by certain exocrine glands, this secret has an increased viscosity. Due to the difficulties arising in its evacuation, there is a blockage of the ducts of the mucous glands, glandular organs, the gastrointestinal tract and the bronchial tree, against which secondary changes develop in the lungs, pancreas, intestines and liver (in particular, these are enzymatic disorders and obstructive processes inflammatory). Due to the development of the inflammatory process in combination with fibrosis, a secondary form of organ failure develops. When studying the secretion of the bronchial glands, phosphorus is found in an increased amount, in addition, the concentration of potassium and sodium is subject to decrease, which is why some authors are inclined to assume that this is precisely the reason why the mucus has an increased viscosity.

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

As the basis for those changes that occur with the respiratory organs in the disease we are considering, there is a violation of the patency of the bronchioles and small bronchi. Filled with purulent-mucous contents, the bronchial glands gradually increase in size, due to which they protrude and subsequently overlap the lumen of the bronchi. There is the formation of drop-shaped and cylindrical bronchiectasis of the saccular type, as well as the formation of emphysematous areas of the lung. In this case, the bronchi undergo complete obstruction with sputum (that is, complete blockage that interferes with patency).

The main role in the development of cystic fibrosis is assigned to a gene mutation that provokes a violation of the structure (along with functions) of the transmembrane regulator of cystic fibrosis (CFTR, a specific protein involved in transporting chlorine ions across the cell membrane; CFTR also determines the name for the gene due to which this protein is encoded) ).

Dwelling in more detail on the processes relevant to cystic fibrosis, you can get the following picture of the disease. So, viscous sputum, the accumulation of which occurs in the lungs, leads to the development of inflammatory processes here. This is also accompanied by violations of their blood supply and ventilation. As a result, patients develop a painful cough in manifestation - one of the main and constant manifestations of the disease of interest to us. In the future, the lungs are freely exposed to infection, and mainly it occurs due to Pseudomonas aeruginosa or staphylococcus, which is accompanied by the gradual development of destructive changes. The explanation for this is a violation of local immunity, in which the level of interferon, antibodies, phagocyte activity decreases, and the state of the bronchial epithelium is also subject to changes.

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

Lack of pancreatic enzymes becomes the reason that patients with cystic fibrosis face problems associated with digesting food (this, in turn, determines their weight loss, which is important even with increased appetite). Stagnation of bile becomes the cause of the development of cirrhosis of the liver in some patients or a factor that provokes the formation of stones in the gallbladder.

If you try to figuratively define how patients with cystic fibrosis live, you can invite readers to imagine the need for a constant stay in a gas mask. In a gas mask that cannot be removed, moreover, in a gas mask that from day to day copes with the function that is predetermined for him. Patients with cystic fibrosis are in a similar position - their lungs cope with their functions only by 25%.

Forms of cystic fibrosis

The disease we are considering is characterized by many different manifestations that are relevant for it, and all of them are determined by the severity of pathological changes, the urgency of complications, as well as the age of the patient. The forms of cystic fibrosis can be as follows:

• predominantly pulmonary (bronchopulmonary or respiratory);
• predominantly intestinal;
• mixed (in this case, both the respiratory and gastrointestinal tract are subject to damage);
• meconium intestinal obstruction;
• erased and atypical variants of the manifestation of the disease.

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

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

Cystic fibrosis in women manifests itself in a decrease in fertility (the ability to reproduce offspring), this is due to an increased degree of viscosity, which is relevant for the discharge of the uterine cervical canal, due to which the possibility of sperm migration is complicated.

Cystic fibrosis of the lungs: symptoms

In particular, in this case, we will consider pulmonary (or respiratory) form diseases. The first symptoms of cystic fibrosis are manifested in the form of lethargy in patients and general pallor of the skin. In addition, often even an increased appetite does not make it possible to gain weight (this also applies to normal appetite). A severe course is accompanied in some cases by the appearance of coughing in patients already during the first days of their life, over time the cough begins to intensify, due to which, in character, it resembles a cough with whooping cough. The sputum attachment becomes a companion of cough, it is quite thick, and if bacterial flora is layered on it (indicated staphylococcus, etc.), then it gradually becomes purulent-mucous.

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

An objective examination determines the presence of wheezing; when tapped as part of such an examination, the sound is determined as a boxed sound.

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

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

Pneumonia, which is relevant for patients, subsequently becomes chronic, the condition is combined with the development of the previously noted pneumosclerosis (the pathological process of proliferation of connective tissue in the lungs against the background of a disease that is relevant for the patient, as a result of which the affected areas lose their inherent elasticity, simultaneously acquiring disorders associated with their gas exchange function) and bronchiectasis (in this case we are talking about pathological expansion of the bronchi, in which their walls and structure are subject to change). The subsequent development of pneumonia is also accompanied by the appearance of symptoms of the so-called "cor pulmonale" (when, due to the peculiarities of the lesion of the lungs and bronchi, an increase in the pulmonary circulation of blood pressure entailed pathological changes in the form of expansion and increase of the sections located on the right side of the heart). In addition, heart and lung failure develops.

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

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

A more favorable form of the course of cystic fibrosis, in which its manifestation (the development of severe forms of clinical manifestations that occurs after an erased or asymptomatic course of the disease) occurs when an older age is reached, the manifestation of bronchopulmonary pathology occurs with a slow progression of deforming bronchitis in combination with a moderate manifestation of pneumosclerosis.

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

Intestinal cystic fibrosis: symptoms

In this case, respectively, the predominantly intestinal form of the course of cystic fibrosis is considered. The manifestations of this form are caused by the secretory insufficiency, which is relevant for the disease, noted in the gastrointestinal tract. This kind of violation becomes especially pronounced when the child is transferred to complementary foods or artificial feeding. This is accompanied by insufficient breakdown and subsequent absorption of fats and proteins, the lack of breakdown and absorption of carbohydrates occurs to a lesser extent.

There is a predominance of putrefactive processes in the intestine, which determines the general decomposition of organic nitrogen-containing compounds (amino acids, proteins) in it during enzymatic hydrolysis, which, in turn, occurs under the influence of ammonifying microorganisms. As a result of this decomposition, end products are formed that have a high degree of toxicity (hydrogen sulfide, ammonia, primary and secondary amines, etc.). Symptoms accompanying putrefactive processes are manifested in the form of an accumulation of gases, due to which, in turn, patients have bloating.

Defecation (stool, bowel movements) in patients becomes more frequent, and such a violation as polyfecal matter, which determines an abnormal increase in the frequency of defecation, is also becoming relevant, which may indicate an excess of the age norm by half (an increase in this frequency by 8 times is also possible).

From the moment a child with cystic fibrosis is taught to potty, he often has such a pathology as rectal prolapse, which occurs in about 10-20% of cases. Rectal prolapse refers to a partial or complete form of rectal eversion through the anus.

Patients also complain of dry mouth, which occurs due to an increase in the viscosity of saliva. Chewing dry food is difficult; in general, the process of absorbing food requires the simultaneous intake of liquid in significant volumes. During the first months of the manifestation of the disease, the appetite in patients, as already noted, is normal, in some cases even increased. Nevertheless, the subsequent development of disorders associated with digestion processes leads to the rapid development of malnutrition - eating disorders against the background of such disorders, as a result of which patients subsequently suffer from a body weight deficit in varying degrees of manifestation. Polyhypovitaminosis also joins this state, which determines a combined form of insufficient supply of the body with vitamins of various groups.

Muscle tone decreases, as well as tissue turgor (normally this is a tense state of the skin, due to which it looks firm and elastic). In addition, patients have abdominal pain of various types of manifestation. So, with flatulence (gas), cramping pains appear, followed by coughing attacks - muscle pain, with actual right ventricular failure - pain in the right hypochondrium.

If pains appear in the epigastric region, this indicates insufficient neutralization in the duodenum of gastric juice against the background of decreased secretion of bicarbonates by the pancreas. It should be noted that a violation of neutralization in this case of gastric juice can provoke the development of peptic ulcer in the duodenal ulcer in patients with a duodenal ulcer; the development of an ulcerative process in the small intestine is also considered an option.

As a complication of the form of cystic fibrosis under consideration, a secondary form of disaccharidase deficiency, a secondary form of pyelonephritis, intestinal obstruction, as well as urolithiasis, which develops as a result of metabolic disorders, can act. A latent form of diabetes mellitus may also develop, which occurs as a result of damage to the insular apparatus in the pancreas. Due to a violation of protein metabolism, hypoproteinemia develops, as a result of which some cases of its manifestations lead to the development of edema syndrome in infants.

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

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

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

Cystic fibrosis: mixed form

The mixed form of the disease determines the disorders that are relevant both for its pulmonary form and for the intestinal form, which we discussed above. As a rule, already in the first weeks from the moment of birth, patients are diagnosed with severe forms of repeated bronchitis and pneumonia. They are characterized by a protracted course, as well as the appearance of a constant cough. Also, sharp forms of eating disorders and intestinal syndrome appear (it manifests itself in the form of loose stools and bloating; feces do not lose their fecal character, but they are liquid, abundant, and the color changes to yellow-green or gray-green; in frequency the stool appears in a standard way, from 3 to 5 times per day).

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

• Stage I. It is characterized by inconsistent functional changes, combined with the appearance of dry cough in patients, without sputum attachment. Dyspnea manifests itself either in a mild form or in a moderate form, in both cases its occurrence is accompanied by previous physical activity. The duration of the course of this stage in patients is often about ten years.
• Stage II. At this stage, a chronic form of bronchitis develops, in which the cough manifests itself already with sputum. Shortness of breath manifests itself in a moderate form, its intensification is noted with exertion. Within this stage, deformation of the fingers (their terminal phalanges) also occurs. In addition, the presence of "crackling" and wet wheezing is noted when listening, breathing is characterized by rigidity. The duration of this stage can be on the order of two to fifteen years.
• Stage III. The stage is already considered here, within which the progression of the bronchopulmonary process is noted in combination with the development of a number of complications. In the lungs, zones of limited pneumosclerosis with diffuse pneumofibrosis are formed, bronchiectasis and cysts are also formed. Patients are diagnosed with a severe form of respiratory failure, which is combined with heart failure (previously noted "cor pulmonale"). The duration of the course of the disease at this stage is about three to five years.
• Stage IV. During this stage, patients develop a severe form of cardio-respiratory failure. The duration of this stage is about several months, its completion determines the death of the patient.

Meconium bowel obstruction

This form of cystic fibrosis is also referred to as meconium bowel obstruction. Its name determines the essence of the current state of patients with cystic fibrosis, respectively, meconium obstruction of the intestine indicates a blockage of the intestine with original feces, meconium. Due to the increased viscosity of meconium, provoked by the disease of interest to us, cystic fibrosis, this blockage occurs.

This pathology manifests itself during the first days of a child's life. It is possible to determine meconium obstruction due to the fact that, in fact, meconium does not leave. Further, by the second day of life, the child's anxiety is noted, he has frequent regurgitation, vomiting appears, in which an admixture of bile is found. This also includes bloating in the child's abdomen, a noticeable vascular pattern appears on it, and tissue turgor decreases. In general, the skin becomes pale and dry. The child's previous anxiety is replaced by a state of adynamia (a condition characterized by a sharp decline in strength, the development of muscle weakness, a decrease or even cessation of any motor activity in the patient). Toxicosis also increases in combination with exicosis (otherwise - dehydration; pathological state of loss of significant volumes of salts and fluids by the body).

Meconium obstruction develops due to the absence of a specific enzyme (trypsin), as a result of which meconium accumulates in the area of \u200b\u200bthe small intestine loops, becoming viscous and dense. The discharge of the first feces in a newborn occurs mainly during the first days from the moment of birth, less often it occurs during the second day. If the child is sick, then, as is already clear, meconium is not released.

An objective examination of the child reveals the presence of tachycardia (heart palpitations) and shortness of breath. Treatment of this condition in a newborn is usually performed through surgery. It should be noted that meconium obstruction has nothing to do with the severity of cystic fibrosis in a sick child. Only in rare cases, cystic fibrosis itself cannot be confirmed by the diagnosis through laboratory and clinical studies.

Separately, we note that this condition can provoke serious complications, namely intestinal perforation in combination with the development of meconium peritonitis in a child. Pneumonia also often joins 3-4 days of life, it is subsequently characterized by its own protracted nature of the course. The development of intestinal obstruction can also appear at an older age of patients.

Diagnostics

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

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

Treatment

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

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

The pulmonary form of cystic fibrosis in the treatment is focused on reducing the degree of sputum viscosity in patients while restoring bronchial patency. Also an important measure in treatment is the suppression of the infectious and inflammatory form of the process. Patients are prescribed mucolytics (inhalations, aerosols), and enzymatic preparations in the form of inhalations can be prescribed. At the same time, physiotherapy exercises, postural drainage and vibration massage for the chest are applied.

The relevance of acute manifestations characteristic of bronchitis and pneumonia requires antibiotic therapy. Metabolics are prescribed to improve myocardial nutrition. The treatment of azoospermia in men with cystic fibrosis through the use of conservative techniques, which in particular means hormonal therapy, determines the absolute lack of effectiveness.

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

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

With cystic fibrosis, patients are observed by a pulmonologist, as well as by the attending pediatrician (therapist). Parents and relatives are required to learn the actions used for vibration massage of the patient, as well as the basic rules that must be followed for caring for him.

Cystic fibrosis is one of the most common genetic diseases in humans. With this ailment, the glands of the respiratory system, gastrointestinal tract and others, form too thick mucus.

Lung disease over time can lead to collapse of the lower right heart (right ventricle).

Complications in digestion

Cystic fibrosis makes patients more prone to diarrhea. Viscous secretions block the ducts of the pancreas, preventing the release of enzymes needed to digest fats and proteins. The secretions interfere with the body's ability to absorb fat-soluble vitamins (A, D, E, K).

Cystic fibrosis affects the pancreas, and because this organ controls blood sugar levels, people with cystic fibrosis may have diabetes. In addition, the bile duct can become clogged and inflamed, leading to liver problems such as cirrhosis.

Treatment and therapy of cystic fibrosis

In order for the symptoms and complications of cystic fibrosis to be minimal, several treatments are used, their main goals are:

• prevention of infections
• reducing the amount and thinning the consistency of secretions from the lungs
• improved breathing
• calorie control and proper nutrition

To achieve these goals, therapy for cystic fibrosis may include:

• Antibiotics... The latest generation of drugs are great at fighting bacteria that cause lung infections in patients with cystic fibrosis. One of the biggest problems with antibiotic use is the emergence of drug-resistant bacteria. In addition, long-term use of antibiotics can cause fungal infections in the mouth, throat, and respiratory system.
• Mucolytic drugs... The mucolytic drug makes the mucus thinner and, therefore, improves the secretion of sputum.
• Bronchodilators... Using medications such as salbutamol can help keep the bronchi open, which encourages the expectoration of phlegm and secretions.
• Bronchial drainage... In patients with cystic fibrosis, mucus must be manually removed from the lungs. Drainage is often done by hitting the chest and back with hands. Sometimes an electrical device is used for this. You can also wear an inflatable vest that emits high-frequency vibrations. Most adults and children with cystic fibrosis need to have bronchial drainage performed at least twice a day for 20 minutes or half an hour.
• Oral Enzyme Therapy and Nutrition... Cystic fibrosis can lead to malnutrition because the pancreatic enzymes needed for digestion do not reach the small intestine. So people with cystic fibrosis may need more calories than healthy people. A high-calorie diet, special water-soluble vitamins and pills containing pancreatic enzymes will help you not lose weight or even gain weight.
• Lung transplant... A doctor may recommend a lung transplant if there are severe breathing problems, lung complications that are life-threatening, or if bacteria have developed resistance to the antibiotics used.
• Analgesics... Ibuprofen may slow the destruction of the lungs in some children with cystic fibrosis.

Lifestyle for people with cystic fibrosis

If your child is suffering from cystic fibrosis, one of the best things you can do is learn as much about the disease as possible. Diet, therapy, and early diagnosis of infections are essential.

As with adult patients, it is important to perform daily “shock” procedures to remove mucus from the child's lungs. Your doctor or pulmonologist can advise on the best way to perform this very important procedure.

• Remember vaccinations... In addition to your regular vaccines, also get pneumococcal and influenza vaccines. Cystic fibrosis does not affect the immune system, but makes children more susceptible and prone to complications.
• Encourage your child to live a normal life... Exercise is of utmost importance for people of any age suffering from cystic fibrosis. Regular exercise helps to expel mucus from the airways and strengthens the heart and lungs.
• Make sure your child adheres to healthy diet... Talk to your family doctor or dietitian about your child's nutritional guidelines.
• Use nutritional supplements... Give your child a fat-soluble vitamin and pancreatic enzyme supplement.
• Make sure your child drank a lot of liquid, - it will help thin mucus. This is especially important during the summer season when children are more active and tend to lose a lot of fluids.
• Do not smoke in the house or even in the car, and do not allow others to smoke in the presence of your child. Secondhand smoke is bad for everyone, but people with cystic fibrosis are particularly affected.
• Remember to always wash your hands... Teach all of your family members to wash their hands before eating, after using the toilet, when they return home from work or school. Hand washing is the best way to prevent infection.

In cystic fibrosis, adding protein and calories to the diet is important. After medical advice, you can also take a multivitamin containing vitamins A, D, E and K.

Enzymes and mineral salts

All patients with cystic fibrosis should take pancreatic enzymes. These enzymes help the body absorb fats and proteins.

People who live in hot climates may need a little extra table salt.

Food habits

• Eat when you have an appetite... This means that it is best to have several small meals throughout the day.
• Have a variety of nutritious snacks on hand... Try to eat something every hour.
• Try to eat regularlyeven if it's just a few sips.
• Add grated cheese in soups, sauces, pies, vegetables, boiled potatoes, rice, pasta or dumplings.
• Use skim milk, partially skimmed, fortified cream or milk, for cooking or simply drinking.
• Add sugar to juices or hot chocolate... When you eat porridge, try adding raisins, dates, or nuts.

Cystic fibrosis is a severe hereditary chronic disease resulting from a mutation of a protein that is involved in the movement of chloride ions across the cell membrane, as a result of which the exocrine glands that produce sweat and mucus are affected. The role of mucus in the human body cannot be underestimated: it moisturizes and protects organs from drying out and infection by pathogenic bacteria. Thus, disruptions in mucus production deprive a person of one of the most important mechanical barriers. Cystic fibrosis is incurable and inevitably leads to a serious disruption of the activity of internal organs.

What does the term "cystic fibrosis" itself mean, if it is dissected into its component parts? "Mukus" is mucus, "viscidus" is viscous, which is one hundred percent consistent with the essence of the disease. Viscous, sticky mucus collects in the pancreas and bronchi, literally "clogs", clogs them. Stagnant mucus is a favorable environment for the growth of pathogenic bacteria. The gastrointestinal tract, paranasal sinuses, kidneys, and the entire genitourinary tract are also affected.

Causes and mechanism of development of cystic fibrosis

Cystic fibrosis is a genetic disease caused by a mutation in chromosome 7. This chromosome is responsible for the synthesis of a protein that controls the movement of chlorine ions across the membrane. As a result of the disease, chlorine does not leave the cell, accumulating in it in large quantities. And then - as in a fairy tale: "grandma for a grandfather, grandpa for a turnip ...". Only this fairy tale - "with an unhappy ending" (c). Chlorine attracts sodium ions, and water rushes into the cell after them. This very water is catastrophic and there is not enough mucus to give it the necessary consistency. It loses its properties and can no longer perform the functions that nature has endowed it with.

The further mechanism of the development of the disease is as follows. The mucus, stagnating in the bronchial tree, no longer cleans it from environmental pollutants (dust, smoke, harmful gases). In the same place, in the bronchi, any microbial "riffraff" that causes infections and inflammatory reactions is retained.

Inflammation is followed by a violation of the structure of the bronchial ciliated epithelium, which is entrusted with the main "sewage" functions. The amount of protective proteins-immunoglobulins secreted into the lumen of the bronchi by the same epithelium decreases. Microorganisms over time "undermine" the elastic bronchial framework, in connection with which the bronchi collapse and narrowing, which further contributes to the stagnation of mucus and the reproduction of bacteria.

And what is happening in the digestive tract in the meantime? The pancreas also secretes thick mucus that clogs the lumen of its ducts. Enzymes do not enter the intestines, resulting in impaired absorption of food. The physical development of the child slows down, intellectual abilities decrease.

Symptoms of cystic fibrosis

The disease begins gradually. Over time, the symptoms grow like an avalanche, and the pathological process becomes chronic.

The first signs of cystic fibrosis can be seen when the child reaches six months. By this age, mother's milk ceases to be the only source of nutrition for the baby, and those immune cells that were transmitted with the mother's milk cease to protect the baby from pathogenic microorganisms. Stagnation of mucus, coupled with a bacterial infection, gives rise to the first symptoms:

• unproductive, debilitating cough with the release of a limited amount of viscous sputum;
• dyspnea;
• blue discoloration of the skin;
• a slight increase in temperature is possible;

Over time, hypoxia causes a delay in the physical development of the child, weight gains more slowly, the child is lethargic, apathetic.

The spread of infection in the lungs (in fact -) gives the clinical picture new colors:

• febrile temperature;
• severe cough with profuse secretion of sputum saturated with pus;
• symptoms of intoxication (headache, dizziness, nausea, vomiting)

There is a thickening of the terminal phalanges of the fingers like "drumsticks"

Confirmation of chronic pathological processes in the lungs is the formation of fingers like "drumsticks" (with rounded tips), and the nails become convex, resembling watch glasses. Hypoxia, which is an indispensable attribute of chronic lung diseases, inevitably leads to disruption of the cardiovascular system. The heart lacks the strength to organize normal blood flow in the pathologically altered lungs. Symptoms of heart failure develop.

The defeat of the pancreas occurs in the form of chronic pancreatitis and all the accompanying symptoms.

Other symptoms of cystic fibrosis are worth noting:

• the formation of a barrel chest;
• dry skin, loss of elasticity;
• fragility and hair loss.

Diagnosis of cystic fibrosis

Diagnosis of cystic fibrosis begins from the very roots: information is collected about all family diseases, whether relatives had symptoms of cystic fibrosis, what were they characterized, to what extent they were manifested. A genetic study of DNA is carried out (ideally, in expectant mothers) for the presence or absence of a defective gene. If there is one, future parents must certainly be warned about the possible consequences.

For cystic fibrosis, a special sweat test has been developed, which consists in determining the content of sodium and chloride ions in the patient's sweat after preliminary administration of pilocarpine. The latter stimulates the production of mucus and sweat by the glands of external secretion. The presence of cystic fibrosis can be assumed when the chlorine concentration in the patient's sweat is above 60 mmol / l.

After the sweat test, laboratory tests of sputum, feces, blood, endoscopic examination of the bronchi, spirographic examination, duodenal intubation with the collection of pancreatic secretion and its further examination for the presence of active enzymes are performed.

Treatment of cystic fibrosis

Treatment of cystic fibrosis is aimed, first of all, not at getting rid of the disease itself (this is unrealistic), but at alleviating its course. At the same time, active therapeutic measures (in the acute phase of the disease) constantly alternate with preventive ones (in the remission phase). This tactic allows the patient to live longer.

Treatment for cystic fibrosis has the following goals:

• periodic cleaning of the bronchi from accumulated thick mucus;
• sanitation of the bronchi from pathogenic bacteria;
• strengthening of immunity.

Mucus from the bronchi is removed with the help of physical exercises (sports, dancing, breathing exercises) and pharmacological agents (taking mucolytics).

To fight infections, such antibiotics are used, the action of which extends over a wide antimicrobial range (cephalosporins, macrolides, respiratory fluoroquinolones).

To reduce the swelling of the respiratory tract caused by chronic infection, inhaled corticosteroids ( beclamethasone, fluticasone).

In severe cases, oxygen therapy with mask oxygen is performed.

Air conduction and gas exchange in the lungs can be improved through physiotherapy (warming the chest).

As already mentioned, the disease negatively affects the digestibility of food. To optimize the digestive function, more high-calorie foods (meat, eggs, sour cream, cheese) are added to the diet, and enzyme preparations are additionally introduced ( creon, festal and etc.).

In conclusion, I would like to add a bit of healthy optimism: despite the clearly unfavorable prognosis for the outcome of the disease, with timely treatment and meticulous adherence to all medical recommendations, a patient with cystic fibrosis is quite realistic to live up to 45-50 years. Some hope is also given by the implemented in recent years surgical treatment for cystic fibrosis, which consists in a lung transplant (both lobes). And this year, an operation to transplant lungs to a patient with cystic fibrosis was also performed in Russia, which was truly a real event of the year.