Cystic fibrosis in the newborn was first described by Landsteiner in 1905. Detailed characteristics of the clinical status of children suffering from damage to the pancreas and having meconium obstruction (meconium ileus) were provided.

The name "cystic fibrosis" was given only in 1944 by Farber. Since then it has taken root in international classification diseases and is still used today.

The prevalence of pathology in European countries among newborns is on average 0.05%. In Russia it is lower – 0.01%. The maximum number of registered diseases is observed in Denmark and the UK. The frequency is the same among boys and girls.

Danish doctors managed to achieve the longest life expectancy. In this country it is 40 years or more. In Russia, the average life expectancy is 25 years.

Cystic fibrosis is an inherited disease caused by a mutation that occurs exclusively in one gene. The pathology is transmitted through an autosomal recessive mechanism, i.e. It does not appear in every carrier of the pathological gene.

Moreover, the risk of having a sick child is 25% in each pregnancy if someone has a mutation in this gene.

From a clinical point of view, it is customary to distinguish carriers and sick people. The main manifestation of the disease is damage to the exocrine glands and impairment of respiratory functions.

Cystic fibrosis is characterized by polyorganism (multiplicity of lesions), in pathological process Both mucus-producing and non-mucus-producing glands may be involved. However, the latter do not play a significant prognostic role. Their involvement is characterized by increased release of chlorine and sodium ions.

The disease is initially characterized by a severe course. Effective methods There is no treatment at the moment, which results in a poor prognosis for life.

However early detection for sick children, carried out in the maternity hospital from the first day of life, helps to begin symptomatic and pathogenetic therapy in a timely manner. This significantly improves the quality and length of life.

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Causes and mechanisms of development of cystic fibrosis

The cause of cystic fibrosis was finally established in 1979, when the pathological gene associated with the development of the disease was identified. It is localized on chromosome 7.

The gene is responsible for the formation of a protein located on the membrane of epithelial cells. The main function of this protein is to ensure transmembrane transport of chlorine ions, as well as regulate other ion flows.

The mechanism of development of cystic fibrosis comes down to successively replacing each other:

• the defective protein does not function as a chlorine channel;
• a large amount of chlorine ions accumulates in epithelial cells (epithelial cells), leading to a change in the electrical charge in the intracellular environment;
• electrical inversion leads to increased sodium entry into the epithelial cell;
• sodium attracts water from the interstitial space;
• the secretion of the glands becomes more concentrated due to a sharp decrease in water in the pericellular environment;
• the excretion of glandular secretions is disrupted and blockage of the excretory ducts develops.

This leads to various functional disorders of organs.

There is complete blockage of the lumen of small bronchioles. These changes create the background for the development of chronic inflammation in the respiratory system, leading to the destruction of connective tissue structures that create the elastic framework of the bronchi.

As a result, bronchiectasis appears (saccular expansions of the bronchial tree, in which infection often develops). Against this background, the lungs cannot perform basic functions, and hypoxia develops.

The end result of this form of cystic fibrosis is the development of heart and pulmonary failure, the correction of which determines the prognosis for life.

Pancreatic damage develops during the prenatal period. In this form, the formation of pancreatic enzymes occurs as usual, but they cannot enter the duodenum. This activates autolysis (self-digestion) of the pancreas with the formation of cysts and the proliferation of connective tissue.

In 20% of newborns, meconium ileus is a manifestation of cystic fibrosis. This condition is characterized by the formation of viscous meconium with blockage of the final sections of the small intestine.

This condition is based on a violation of ion transport (sodium, chlorine and water), leading to thickening of the original feces.

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Forms of the disease

Clinical forms of cystic fibrosis cause some difficulties in diagnosis.

The most common 3 main ones:

• pulmonary (15-20%);
• intestinal (10%);
• mixed – combined damage to the lungs and intestines is observed (up to 70% of all diagnosed cases).

Symptoms of cystic fibrosis in adults may be mild. Therefore, a more erased form of the disease is isolated, occurring under the “masks” of various pathologies.

The intestinal form first debuts in childhood, as a rule, after transferring the child to artificial feeding. After the cessation of maternal milk supply, there is a shortage of children's pancreatic enzymes.

This leads to the appearance of a number of clinical symptoms:

• intestinal bloating due to activation of putrefactive processes;
• frequently repeated acts of defecation. Light-colored stool contains a large amount of fat, which gives it a foul odor (this symptom is called steatorrhea);
• after starting to put the child on the potty;
• dry mouth due to increased viscosity of saliva;
• difficulty chewing dry food (for the same reason) and the need to constantly drink water while eating;
• early development of malnutrition (growth retardation) and hypovitaminosis due to impaired absorption processes in the intestine.

Cystic fibrosis as a lung disease includes a number of clinical syndromes:

• obstructive (airway obstruction);
• addition of a secondary infection;
• bronchiectasis (local dilatation of the bronchi);
• emphysematous (increased airiness of the lungs);
• pneumosclerotic (overgrowth of connective tissue in the lungs);
• cardiopulmonary failure.

As a rule, others notice the child’s abnormal condition. Their attention is drawn to such signs as:

1. pale skin with an earthy tint;
2. cyanosis of fingertips and nose;
3. shortness of breath, observed even at rest;
4. barrel chest associated with emphysematous expansion of the lungs;
5. the terminal phalanges of the fingers take on the appearance of “drumsticks” against the background of chronic hypoxia;
6. poor appetite and severe thinness.

From birth, the sweat of patients with cystic fibrosis contains high concentrations of chlorine and sodium. These figures have increased 5 times or more.

Increased ambient temperatures provoke even greater salt loss. Developing electrolyte and metabolic disorders (alkalinization of the blood) cause the frequent development of heat stroke.

Symptoms and manifestations in adults

Erased forms of the disease usually detected in adults during random examination. They are associated with special variants of mutations in the pathological gene, which lead to minor damage to epithelial cells.

The disease occurs under the “mask” of other pathological processes, for which a thorough examination begins:

• inflammation of the paranasal sinuses;
• recurrent bronchitis;
• cirrhosis of the liver;
• male infertility - associated with obstruction of the spermatic cord or its atrophy, as a result of which sperm cannot enter the semen;
• - associated with increased viscosity of cervical secretion, which disrupts the transport of sperm to the uterus, retaining them in the vagina.

Therefore, all patients suffering from infertility, the cause of which cannot be identified by standard examination methods, must be referred to a geneticist. Analysis of genetic material and additional biochemical tests can identify an erased form of cystic fibrosis.

Symptoms and course of cystic fibrosis in infants

Symptoms of cystic fibrosis in children in the first month of life can manifest as prolonged neonatal jaundice. Normally, newborn jaundice should go away within a month after birth, but with cystic fibrosis it persists for several months.

Its development is associated with thickening of bile. This condition is accompanied by activation of fibroformation in the liver. With a frequency of 5 to 10%, such children develop biliary cirrhosis, which has an extremely unfavorable course and requires liver transplantation.

Signs of meocnial ileus as a manifestation of cystic fibrosis can be detected in the prenatal period - during the second or third ultrasound screening. However, the frequency of their detection is low - only 10%.

Typically, the first clinical signs of cystic fibrosis appear immediately after birth, progressing steadily during the first year of life. They are invested in intestinal obstruction syndrome. Sick children have no physiological stool.

By the 2nd day, the child appears restless, bloating, frequent regurgitation and vomiting, which contains bile. Over the course of 2 days, the condition progressively worsens:

1. The skin becomes dry and pale.
2. Anxiety turns into lethargy and weakness.
3. Dehydration and intoxication are increasing.

Diagnostics and tests

Laboratory diagnosis of cystic fibrosis must be carried out in the presence of characteristic clinical and anamnestic signs.

These include:

• a burdened family history (especially an indication of the death of a child in the first year of life, a verified diagnosis of cystic fibrosis in relatives);
• early onset of the disease in childhood;
• steadily progressing course;
• predominant damage to the bronchopulmonary and digestive systems (damage to the latter begins in utero);
• infertility or reduced fertility in adults.

Laboratory methods for diagnosing cystic fibrosis are:

1) Test for immunoreactive trypsin, conducted only for children in the first month of life. The diagnostic criterion is exceeding standard values ​​by 5-10 times or more.

However, a false positive result can be obtained due to hypoxia suffered during childbirth. This test for cystic fibrosis is carried out in the maternity hospital on the 4th-5th day of life (blood for the test is obtained from the heel).

2) “Sweat” test– most common. It is based on determining the concentration of sodium and chlorine in sweat, which are higher than the standards for cystic fibrosis.

The material can be any cell of the human body, so the method can be used even in the prenatal period.

The material for the study is blood obtained from the umbilical cord (cordocentesis). This test recommends genetic testing for high-risk couples.

Instrumental studies carried out when cystic fibrosis is suspected are aimed at identifying indirect signs of this disease.

• X-ray of the lungs;
• bronchography;
• spirography;
• Ultrasound scan of the abdominal cavity.

Treatment of cystic fibrosis is carried out comprehensively using pharmacological and physiotherapeutic methods, while simultaneously changing lifestyle.

Its main goals are:

1. Prevention of respiratory tract infections.
2. Ensuring adequate nutrition.

Mandatory therapeutic areas for cystic fibrosis are:

• the use of pancreatic enzyme preparations that eliminate impaired absorption in the intestine;
• mucolytics to thin viscous sputum and effectively cleanse the bronchial tree;
• antibacterial therapy (preventive and therapeutic) with a predominant inhalation route of administering drugs through a nebulizer;
• taking anti-inflammatory drugs;
• taking vitamins;
• dietary food;
• Healing Fitness.

Children and adults suffering from cystic fibrosis are recommended to engage in certain sports for therapeutic purposes:

• badminton;
• tennis;
• horse riding;
• golf;
• volleyball;
• cycling;
• yoga;
• swimming;
• skis.

Prohibited sports are:

• boxing and other types of wrestling;
• basketball;
• skates;
• motorcycle riding;
• diving;
• Weightlifting;
• hockey;
• football.

Diet food is based on certain principles that help normalize digestion and improve a child’s weight gain:

1. a large amount of protein in the diet;
2. no fat;
3. the number of calories increases to 130-150% of the age norm;
4. daily addition of fat-soluble vitamins to food (double the daily requirement is recommended).

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Complications of cystic fibrosis

Complications of cystic fibrosis develop early, because... carrying out etiotropic treatment of this disease impossible at this stage of medical development. Symptomatic therapy cannot influence the mechanisms of development of the pathological process.

Therefore, complications arise such as:

• bronchiectasis syndrome;
• heart failure (initially the right ventricular type, and then the left ventricular type joins);
• respiratory failure;
• biliary cirrhosis;
• prone to heat stroke;
• intestinal perforation with the development of peritonitis;
• malnutrition in childhood.

The prognosis for a sick person is primarily determined by the functional safety of the bronchopulmonary system.

Cystic fibrosis - ICD code 10

In the international classification of diseases, cystic fibrosis is:

ICD-10: Class IV

E00-E90 - Diseases of the endocrine system, nutritional disorders and metabolic disorders

E70-E90 - Metabolic disorders

• E84 Cystic fibrosis (Includes: Cystic fibrosis)
• E84.0 Cystic fibrosis with pulmonary manifestations
• E84.1 Cystic fibrosis with intestinal manifestations Meconium ileus (P75)
• E84.8 Cystic fibrosis with other manifestations. Cystic fibrosis with combined manifestations
• E84.9 Cystic fibrosis, unspecified

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

Pulmonary disease can, over time, cause the right lower part of the heart (right ventricle) to collapse.

Digestive complications

Cystic fibrosis makes patients more prone to diarrhea. Sticky secretions clog the pancreatic ducts, preventing the release of enzymes needed to digest fats and proteins. Discharge prevents the body from absorbing 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. Additionally, the bile duct can become clogged and inflamed, leading to liver problems such as cirrhosis.

Treatment and therapy of cystic fibrosis

To symptoms and complications cystic fibrosis were minimal, use several treatment methods, their main goals are:

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

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

• Antibiotics. The latest generation of drugs are excellent at fighting bacteria that cause lung infections in patients with cystic fibrosis. One of the biggest problems with antibiotic use is the emergence of bacteria that are resistant to drug therapy. Additionally, long-term use of antibiotics can cause fungal infections in the mouth, throat, and respiratory system.
• Mucolytic drugs. The mucolytic drug makes the mucus more liquid and, therefore, improves sputum separation.
• Bronchodilators. Using medications such as salbutamol can help keep the bronchi open, allowing mucus and secretions to be coughed up.
• Bronchial drainage. In patients with cystic fibrosis, mucus must be manually removed from the lungs. Drainage is often performed by beating the chest and back with your 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 bronchial drainage at least twice a day for 20 minutes to half an hour.
• Oral enzyme therapy and proper nutrition. Cystic fibrosis can lead to malnutrition because 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 tablets containing pancreatic enzymes will help you not lose weight or even gain weight.
• Lung transplant. The doctor may recommend a lung transplant if there are any serious problems with breathing, pulmonary complications that put your life at risk, 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 suffers from cystic fibrosis, one of the best things you can do is learn as much as you can about the disease. Diet, therapy and early diagnosis of infections are very important.

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

• Remember about vaccinations. In addition to regular vaccines, also get vaccinations against pneumococcal disease and influenza. Cystic fibrosis does not affect the immune system, but it does make 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 physical exercise, help expel mucus from the respiratory tract and strengthen the heart and lungs.
• Make sure your child adheres to healthy diet. Talk about your child's nutritional rules with family doctor or with a dietitian.
• Use nutritional supplements . Give your child supplements with fat-soluble vitamins and pancreatic enzymes.
• Make sure the child drank a lot of fluids, – it will help thin the mucus. This is especially important during the summer season, when children are more active and tend to lose a lot of fluid.
• Do not smoke in the house and even in the car, and do not allow others to smoke in the presence of your child. Second-hand smoke is harmful to everyone, but people with cystic fibrosis are particularly affected.
• Remember to always wash your hands. Teach all your family members to wash their hands before eating, after using the toilet, and when returning home from work or school. Hand washing is the best way to prevent infection.

If you have cystic fibrosis, adding protein and calories to your diet is important. After medical advice, you can also take a supplemental 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 metabolize fats and proteins.

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

Eating habits

• Eat when you have an appetite. This means it's best to eat several small meals throughout the day.
• Always have a variety of nutritious snacks on hand. Try eating something every hour.
• Try to eat regularly, even 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, enriched cream or milk, for cooking or just for drinking.
• Add sugar to juices or hot chocolate. When you eat porridge, try adding raisins, dates or nuts.

Cystic fibrosis (other name: cystic fibrosis) is a progressive genetic disease that is caused by persistent infections in the gastrointestinal tract and lungs, limiting the functions of the respiratory system and gastrointestinal tract.

People with cystic fibrosis have a defective gene that is characterized by a thick, sticky build-up of mucus in the airway and other organs.

Mucus clogs the lungs Airways and traps bacteria leading to infections, extensive lung damage and ultimately respiratory failure.

The pancreas reacts by forming areas of fibrous tissue degeneration, and the excretory ducts grow with cystic tissue. Dystrophic changes of fatty and protein origin occur in the liver, stagnation of bile, as a result. Second, international name Cystic fibrosis comes from exactly this process - cystic fibrosis.

With intestinal obstruction in newborns, the intestinal mucous surface is predominantly affected; swelling of the submucosal layer of the intestine may be present. Cystic fibrosis is often accompanied by other birth defects gastrointestinal tract. Based on the pathogenetic picture of the disease, it already becomes clear what kind of disease it is. It is necessary to analyze in detail clinical syndromes cystic fibrosis.

Symptoms of cystic fibrosis

Photos of women with cystic fibrosis

Symptoms of cystic fibrosis usually begin in early childhood, although they can sometimes develop very soon after birth or appear in adulthood for a long time.

Some of the main and common symptoms cystic fibrosis:

• the skin of the human body is slightly salty;
• body weight - reduced, thinness below normal even with a healthy appetite;
• disruption of the normal functioning of the stomach () - chronic diarrhea, high fat content in stool;
• breathing - wheezing, whistling;
• forced exhalation through the mouth (cough) - paroxysmal, painful, with the release of a large amount of sputum;
• frequent infections in the air respiratory system in humans, including or
• “drumsticks” - thickening of the fingertips, often with deformed nails;
• benign neoplasms in the nose - as a result of proliferation of the mucous membrane of the nasal cavity and sinuses;
• rectal prolapse

Drumsticks

Clinical forms of the disease

Depending on the predominant lesion, it is customary to distinguish clinical forms of the disease:

• pulmonary, bronchopulmonary;
• intestinal;
• meconium ileus;
• mixed form - pulmonary and intestinal;
• atypical forms.

Since the disease is genetic and associated with important physiological processes, its clinical manifestations are detected already from the first days of a newborn’s life, in some cases, at the stage of intrauterine development. The most common type diagnosed in newborns is meconium ileus.

Symptoms of meconium ileus

Meconium is called original feces. These are the first bowel movements of a newborn. In a normal, healthy state, meconium should be released during the first day of the baby's life.

Its delay in cystic fibrosis is associated with the absence of the pancreatic enzyme trypsin. It does not enter the intestinal lumen, meconium stagnates, mainly in the area. As stagnation progresses, the following symptoms are observed:

• restlessness, crying of a child;
• pronounced;
• first regurgitation, then vomiting.

Upon objective examination, the vascular pattern on the anterior abdominal wall is sharply enhanced; when the abdomen is tapped, a drumming sound is heard; the child’s anxiety is replaced by lethargy, insufficient motor activity, the skin is pale in color and dry to the touch. The phenomena of internal poisoning by decay products are increasing.

When listening to the heart, it is determined:

• no signs of peristaltic bowel movement are heard.

X-ray examination shows:

• swelling of the loops of the small intestine,
• a sharp collapse of the intestinal sections of the lower abdominal cavity.

The condition quickly deteriorates, given the patient’s young age; a fairly close in time dangerous complication is peritonitis, as a consequence of a rupture of the intestinal wall. Pneumonia may occur, which is severe and protracted.

Pulmonary form

When the bronchopulmonary system is predominantly affected, the first sign is respiratory failure. It is manifested by pronounced pallor of the skin, a significant lag in weight, while the child’s appetite remains intact. Already in the first days of life, breathing is accompanied by coughing, with a gradual increase in cough intensity. It becomes similar to whooping cough attacks - reprises.

The thick, viscous substrate fills, first of all, the lumens of the small bronchi. Emphysematous areas form. Such lung damage is always bilateral, which is an important diagnostic sign. Inevitably, lung tissue is involved in the pathological process, and pneumonia develops.

Thick mucus is an excellent breeding ground for microorganisms that cause pneumonia. Sputum quickly changes from the mucous membrane to mucopurulent, from it, during microbiological analysis, mainly streptococcus, staphylococcus, and, less often, opportunistic pathogenic microorganisms of other groups are isolated. Inflammation of the lungs is always severe, protracted, with subsequent development of complications:

• pyopneumothorax,
• pneumosclerosis,
• pulmonary and pulmonary-.

When listening to the lungs, one can clearly differentiate moist rales, predominantly fine rales. Percussion sound above the surface of the lungs has a boxy tint. The patient is sharply pale, the skin is dry, and a significant amount of sodium salts are released with sweat.

If cystic fibrosis is benign, then its manifestations, including pulmonary ones, can be seen at an older age, when the body already has compensation mechanisms. This is what leads to a slow increase in symptoms, the development of chronic pneumonia followed by. Deforming bronchitis gradually develops with the transition to moderate pneumosclerosis.

The upper respiratory tract is not left without involvement; diseases of the paranasal sinuses, adenoids, polypous growths of the nasal mucosa, and chronic tonsillitis may occur. Damage to the pulmonary apparatus affects appearance patient:

• severe pallor of the skin;
• cyanosis of the limbs or skin in general;
• shortness of breath at rest;
• the characteristic shape of the chest is barrel-shaped;
• deformation of the terminal phalanges of the fingers - “drum sticks”;
• low body weight combined with loss of appetite;
• disproportionately thin limbs.

Bronchoscopic examination shows the presence of thick mucus in the lumens of the small bronchi. X-ray examination of the bronchi reflects a picture of atelectasis of the bronchial tree, a significant decrease in the branches of the small bronchi.

Symptoms intestinal form

Digestion cannot proceed normally if insufficient secretory substances necessary for this process are released. It is viscosity and low production of biologically active fluids that cause digestive insufficiency in cystic fibrosis.

Clinical symptoms are especially pronounced when the child is transferred to a more varied diet or milk formula. Digestion of food is difficult, food does not move through the gastrointestinal tract. Putrefactive processes are actively developing.

The child’s abdomen is sharply swollen, stools are frequent, and the amount of feces released is several times greater than in normal conditions. The appetite is not reduced, it is even possible to eat a larger amount of food compared to healthy children. However, children suffering from this pathology practically do not gain weight, tone muscle tissue reduced, the elasticity of the skin is also reduced.

When eating, the patient is forced to drink a lot of liquid, since little saliva is secreted, and dry food is difficult to chew. Insufficiency of pancreatic secretion and disruption of its functioning leads to the development of diabetes mellitus, gastric ulcer and duodenal part of the digestive tract.

Since nutrients from food are practically not absorbed, patients suffering from cystic fibrosis have vitamin deficiencies - hypovitaminosis, hypoproteinemia. Low levels of proteins in the blood plasma lead to swelling, especially pronounced in infants.

Mixed form

Pictured is 6-year-old Amy, who was diagnosed with mixed cystic fibrosis.

One of the most severe clinical forms of the disease. From the first days of life, symptoms of pulmonary and intestinal forms of the disease are revealed:

• severe, prolonged inflammation of the lungs and bronchi;
• severe cough;
• malnutrition;
• , digestive disorders.

There is a direct connection with the age of the patient at which the disease became more pronounced and the malignancy of its course.

The younger the child, the worse the prognosis for symptom management and life expectancy.

Diagnosis of the disease

Diagnostic criteria include positive results from the medical history and examination of the patient:

• weight loss – malnutrition, lag in physical development from the age norm;
• chronic recurrent, lung, paranasal sinuses, increasing respiratory failure;
• , dyspeptic complaints;
• the presence of similar diseases in close relatives, especially sisters and brothers.

From clinical and laboratory research the main ones are:

• sweat analysis for the amount of sodium chloride;
• scatological examination of stool;
• molecular analyzes using .

The sweat test is the most accepted test. The concentration of salts in sweat fluid sampled three times must exceed the diagnostic positive threshold of sixty millimoles per liter. Sweat fluid is collected after provocative electrophoresis with pilocarpine.

A scatological study is carried out to determine the amount of chymotrypsin in the stool and the content of fatty acids. With pancreatic insufficiency, their content increases compared to the norm and amounts to more than 25 mmol/day.

Molecular studies or DNA diagnostics are the most accurate method. Today, it is widely used, but has several disadvantages:

• expensive;
• not readily available in small towns.

Perinatal diagnosis is also possible. The analysis requires a certain amount of amniotic fluid, which becomes possible after a pregnancy of more than eighteen to twenty weeks. The probability of erroneous results ranges from no more than four percent.

Treatment of cystic fibrosis

All therapeutic measures for the diagnosis of cystic fibrosis are symptomatic. They are aimed at alleviating the patient's condition. One of the main directions is to compensate for the lack nutrients when taken with food. Since digestion is defective, the diet should contain thirty percent more calories than is normally necessary.

Diet food

The basis of the diet for cystic fibrosis should be proteins. The amount of fish, meat products, cottage cheese, eggs should be increased, but the proportion of fatty foods should be reduced. It is especially necessary to pay attention to refractory fats - pork, beef. It is necessary to compensate for the lack of fatty foods with moderately saturated fatty acids or polyunsaturated fatty compounds. To break them down, the pancreatic enzyme lipase is not needed, a deficiency of which is experienced by the body suffering from cystic fibrosis.

It is also necessary to limit the consumption of carbohydrates, especially lactose. It is necessary to establish what kind of disaccharidase deficiency the patient has. Lactose is milk sugar found in dairy products. The lack of a digestive enzyme with active consumption of dairy products leads to aggravation.

Excessive loss of salts through sweat must be compensated by adding sodium chloride to food, especially in summer. You also need to remember this in case of diseases accompanied by high temperature. Loss of fluid threatens even greater dryness and difficulty in physiological processes. Drinks should make up a significant amount in the daily diet so that the body has the opportunity to compensate for its loss.

It is imperative to include in the list of foods consumed those that contain vitamins of all groups and microelements. Butter must be added in small quantities. There should be a sufficient proportion of fruits, vegetables, and root vegetables.

The deficiency of one's own digestive processes is compensated for by the administration of pancreatic enzyme preparations, their basis being pancreatin. A normal amount of stool and a decrease in the dose of neutral fat in the feces are indicators of selecting the correct dose of the enzyme. Representatives of the acetylcysteine ​​group are prescribed to enhance the outflow of bile when it stagnates and it is impossible to carry out duodenal intubation.

Treatment of pulmonary pathologies

Mucolytic agents are prescribed - substances that make bronchial secretions more liquid. The patient must receive therapy in this direction throughout his life. This includes not only pharmacological preparations, but physical procedures:

• physiotherapy;
• vibration massage.

Bronchoscopy is not only a diagnostic measure, but also a therapeutic measure. The bronchial tree is washed using mucolytics or saline if all palliative procedures are ineffective.

The addition of acute respiratory diseases, bacterial bronchitis or pneumonia requires the prescription of antibacterial drugs. Since digestive deficiency is one of the leading symptoms, it is best to administer antibiotics parenterally, through injections or in an aerosol.

One of the radical treatment measures is lung transplantation. The question of a transplant arises when further compensation through therapy has exhausted its possibilities. A transplant of both lungs at once can significantly improve a patient's quality of life. Transplantation is indicated if other organs are not involved in the disease. Otherwise, the most complex operation will not bring the desired result.

Forecast

Cystic fibrosis is a complex disease, and the types and severity of symptoms can vary greatly. Many different factors, such as age, can influence a person's health and the course of the entire disease.

Despite unconditional progress in the diagnosis and treatment of cystic fibrosis, the prognosis remains unfavorable. Death is possible in more than half of the cases of cystic fibrosis. The average life expectancy is from 20 to 40 years. In Western countries, patients can live up to 50 years.

The number of diagnoses that contain complex medical terms is growing every year. This is due not only to the fact that public health is not at a low level.

This is largely due to technological progress, thanks to which more and more advanced diagnostic methods are appearing. This is what happens with cystic fibrosis. Over the past decades, the number of patients with this diagnosis has increased.

.

Cystic fibrosis is a systemic hereditary disease that affects the exocrine glands. All body systems suffer, but the respiratory, digestive and sweat glands are most severely affected.

Cystic fibrosis is the most common genetic disease that is widespread, affecting people of all races, but not to the same extent. Whites are most susceptible to it, people of Asian origin are least susceptible (ratio 1:3300 in whites, 1:15,300 in blacks, 1:32,000 in Asians). Not so long ago, cystic fibrosis was considered a disease of children, since patients did not survive to adulthood; now, thanks to the discovery and improvement of methods of maintenance therapy, about half of them survive to adulthood.

In medical reference books there is another name for the disease - cystic fibrosis.

Causes and risk factors

The cause of cystic fibrosis is the presence of mutations in both alleles of a gene localized on the long arm of chromosome 7 (7q31). The gene is responsible for the synthesis of the cystic fibrosis transmembrane regulatory protein (CFTR, Cystic Fibrosis Transmembrane conductance Regulator). The protein is a channel that transports chlorine and sodium ions across the membranes of epithelial cells lining the respiratory, digestive tracts, etc., which is regulated by cyclic adenosine monophosphate (cAMP).

The disease is inherited in an autosomal recessive manner, that is, children whose both parents are carriers of the defective gene are affected.

The prevalence of the gene causing cystic fibrosis in the population is 3-4%.

Violation of ion transport through the membrane of epithelial cells leads to the fact that the secretion of the exocrine glands becomes dehydrated and becomes viscous. In the pancreas, a thick secretion clogs the excretory ducts, reduces the activity of pancreatic lipase, and reduces the amount of bicarbonates. Metabolic processes in the developing connective tissue are disrupted, and the process of sclerosis begins. Already at 2-3 years of age, a child with cystic fibrosis may experience complete scarring of the pancreas.

Changes in the bronchial tree concern, first of all, the composition of mucin (mucus), in which the ratio of water and solid parts is disturbed, which causes an increase in the viscosity of the secretion. In addition, the amount of leukotrienes and cytokines produced by macrophages, neutrophils and epithelial cells, which activates the enzyme elastase. As a result, we observe:

• excessive production of pathologically viscous bronchial secretions;
• violation of the mucociliary and cough defense mechanism;
• colonization of the bronchial tree by pathogenic microorganisms;
• development of secondary inflammation;
• formation of bronchiectasis (pathological dilation of the bronchi).

Several environmental factors contribute to worsening the severity of the disease, these include:

• living in environmentally unfavorable areas;
• respiratory allergens;
• tobacco smoke.

Forms of the disease

The clinic uses a classification of cystic fibrosis based on the predominant symptoms:

• bronchopulmonary form;
• intestinal;
• mixed intestinal-pulmonary;
• meconium ileus, or meconium ileus.

A classification is also used based on the degree of damage to the pancreas, according to which they distinguish:

• cystic fibrosis with pancreatic insufficiency;
• cystic fibrosis without pancreatic insufficiency, including the primary genital form with congenital bilateral aplasia of the vas deferens;
• atypical forms.

Stages of the disease

Based on pathological changes in the respiratory system, 4 stages of cystic fibrosis are distinguished.

	Characteristic
	Transient functional changes; manifested by attacks of dry, non-productive cough, mild or moderate shortness of breath during physical activity. Duration – up to 10 years.
	Chronical bronchitis. Manifestations: productive cough, shortness of breath, worsening with physical activity, with auscultation hard breathing with moist rales. The average duration is 2–5 years.
	Development of complications. Respiratory failure appears and increases, which is caused by pneumofibrosis, pneumosclerosis, bronchiectasis, and cysts. Right ventricular heart failure (cor pulmonale) is formed. The average duration is 3–5 years.
	Terminal. Manifested by severe cardiopulmonary failure. Lasts several months and ends in death.

Symptoms

Symptoms of cystic fibrosis can have varying degrees of severity; there are both severe mixed and erased forms of the disease.

Bronchopulmonary form

It is characterized by recurrent prolonged bronchitis, bilateral focal pneumonia, which over time leads to the development of bronchiectasis, pneumofibrosis and pneumosclerosis. Patients suffer from inspiratory dyspnea. The chest has a barrel-like shape, the terminal phalanges of the fingers are deformed, thickened (symptom of drumsticks), nails have a characteristic convex shape (symptom of watch glasses), the skin is cyanotic. There are signs of heart failure caused by cor pulmonale, the formation of which is caused by a chronic inflammatory process in the bronchopulmonary system and chronic hypoxia.

Leading symptoms:

• paroxysmal cough with the discharge of viscous mucous or mucopurulent sputum;
• dyspnea;
• pale or cyanotic skin and mucous membranes;
• weakness, increased fatigue.

Intestinal form

Manifests itself in disruption of digestive processes and intestinal dysfunction. Damage to the pancreas leads to impaired absorption of fats by the body, which is manifested by bloating, oily, poorly formed stools (the result is muscle hypotension and osteoporosis). Increased viscosity of bile leads to the development of cholelithiasis, cholestatic hepatitis, and over time, biliary cirrhosis of the liver (often by the age of 12), various gastric disorders. Often, patients with cystic fibrosis develop peptic ulcer stomach and duodenum. Leading symptoms:

• paroxysmal abdominal pain, cramps;
• bloating;
• nausea, repeated vomiting.

Mixed form

It has signs from both the bronchopulmonary system and the gastrointestinal tract. This is the most severe of all forms of cystic fibrosis.

Meconium ileus, or intestinal obstruction

Develops in 13–18% of newborns due to deficiency of the enzyme trypsin, increased amount of albumin and increased absorption of water from meconium. Because of this, meconium (original feces) acquires excessive viscosity and thickness and is not excreted, but accumulates in the ileocecal area, forming intestinal obstruction.

Other signs

Patients have excessive sweating, due to which, during fever or summer heat, dehydration may develop with poor circulation. The skin has a salty taste.

Features of the course of cystic fibrosis in children

It is manifested by the absence of stool, bloating, frequent regurgitation and repeated vomiting containing an admixture of bile in newborns in the first days of life.

Prolonged jaundice in newborns is often observed.

If meconium ileus is absent, the first manifestation of the disease may be slow weight gain.

Protein malabsorption can lead to generalized edema, especially in children receiving artificial hypoallergenic nutrition.

Due to impaired functioning of the pancreas, children with cystic fibrosis at an early age experience bloating and frequent, oily, foul-smelling stools. Against the background of normal or even increased appetite, physical development lags behind - characterized by insufficiency of muscle and fat tissue. Gastroesophageal reflux is common. Rectal prolapse occurs in 20% of young children.

Impaired pancreatic function also leads to impaired glucose tolerance and, as a consequence, diabetes mellitus in 2% of children and 20% of adolescents.

Leading symptoms in young children:

• paroxysmal cough with viscous sputum;
• pallor, cyanosis;
• shortness of breath, decreased tolerance to physical activity.

Adolescents with cystic fibrosis often experience delayed puberty.

Children and adolescents are susceptible to infectious diseases, especially of the respiratory tract.

Diagnostics

Neonatal screening is the main method for diagnosing cystic fibrosis in newborns and is the standard in some countries. It is carried out in two stages:

1. Determination of the level of immunoreactive trypsinogen in the blood - in cystic fibrosis it is increased. In this case, the second stage is carried out.
2. One option involves a sweat test (measuring chloride concentrations), the other tests for a mutation in the CFTR gene, and if a mutation is found, a sweat test is performed.

Neonatal screening allows diagnosis in 90% of newborns with cystic fibrosis.

In cases where neonatal screening was not carried out, or for some reason turned out to be insensitive, if cystic fibrosis is suspected, a sweat test is used. The method involves medicinal stimulation of sweating in the forearm, after which 50 ml of sweat is collected and sent for testing of chloride levels. The diagnosis is considered established if the chloride content is 100 mmol/l or more. A concentration of 60–100 mmol/L indicates the likelihood of cystic fibrosis and requires retesting and further examination.

Diagnostically informative is the analysis of stool for trypsin, as well as the analysis of samples of nail plates for the content of sodium ions.

A genetic analysis is carried out - the detection of two characteristic mutations (one on each chromosome) confirms the diagnosis, and the detection of only one mutation is a sign of carriage. The patient's family history is studied.

In order to obtain a complete picture of the state of the respiratory system, the following is also carried out:

• radiography;
• sputum analysis (as well as clinical tests blood, urine and feces);
• spirography;
• bronchoscopy.

If necessary, additional examination methods are used.

Treatment

Cystic fibrosis is an incurable disease. However, comprehensive supportive therapy aimed at timely treatment of disorders and prevention of complications allows patients to live longer and maintain an acceptable lifestyle.

The treatment of cystic fibrosis should be carried out by a multidisciplinary team of specialists (pulmonologist, gastroenterologist, nutritionist, exercise therapy specialist and others) under the guidance of a doctor with experience in managing patients with this disease. It is important that the patient and his family receive psychological support.

Basic therapy:

1. The diet is high-calorie, enriched with proteins, vitamins and microelements, gentle on the organs of the hepatobiliary system.
2. Enzyme replacement therapy (taking pancreatic enzymes).
3. Taking choleretic drugs in long, regularly repeated courses.
4. Mucolytics and bronchodilators continuously or with short breaks.
5. Physiotherapy to facilitate mucus discharge (postural drainage, vibration massage, breathing exercises, percussion, exercise therapy).
6. Antibiotic therapy. Prescribed for exacerbation of the infectious-inflammatory process after determining the sensitivity of the pathogen.
7. Vitamin therapy. Taking vitamin-mineral complexes.
8. Body weight control. With significant lack of body weight, they resort to anabolic steroids.

Patients are being monitored at the dispensary; They undergo regular examinations, at least once every 3 months, based on the results of which the doctor can adjust maintenance therapy.

Possible complications and consequences

Without treatment, cystic fibrosis can lead to the development of numerous complications, including life-threatening ones. These include:

• respiratory and heart failure;
• irreversible biliary cirrhosis accompanied by portal hypertension;
• intussusception;
• intestinal obstruction;
• parkcreatite;
• cancer of the pancreas and other organs digestive system, especially the hepatobiliary tract;
• Crohn's disease;
• male infertility caused by obstructive azoospermia; and etc.

Forecast

The prognosis depends on the form, severity of the disease and age of onset. Currently, thanks to maintenance therapy, the situation is improving every year, and in countries with developed medicine, approximately half of patients overcome the 40-year mark. The average life expectancy is about 35 years, and this figure increases every year.

Prevention

When planning a child in a family where there is a patient with cystic fibrosis, gene diagnostics is necessary.

Neonatal screening allows for a timely diagnosis and initiation of treatment.

Children with developmental disorders, susceptible to bronchopulmonary diseases or digestive system disorders should be screened for cystic fibrosis.

All patients with cystic fibrosis should be registered at the dispensary.

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Cystic fibrosis I Cystic fibrosis (mucoviscidosis; lat. mucus + iscidus sticky + -ōsis; synonym: cystofibrosis, )

Clinical picture is diverse and depends on the predominant damage to certain exocrine glands, the degree of sclerosis in various organs, the presence of complications and the age of the patients. There are pulmonary, intestinal, mixed (enteropulmonary), atypical forms of M. and meconium obstruction. for clinical forms conditionally, because with a purely pulmonary form, there is a decrease in the enzymatic activity of the glands of the gastrointestinal tract, and with a purely intestinal form, pneumosclerosis gradually forms and with age, pronounced pulmonary fibrosis joins. Meconium obstruction is the first sign of a severe intestinal form of M. in a newborn in the first days of life; subsequently a mixed form develops. Atypical include forms that occur with isolated damage to individual exocrine glands (for example, the liver), and mild erased forms. The leading syndrome that determines the severity and disease is pulmonary.

The first symptoms of the disease occur more often in the first year of life, less often at an older age. The earlier the disease manifests itself, the more severe it is and the more serious the prognosis.

Pulmonary syndrome with M. usually begins with pneumonia (Pneumonia) . The most common pathogens that cause it in children with M. are staphylococcus and Pseudomonas aeruginosa. Sometimes, before symptoms of pneumonia appear, a child experiences dry paroxysmal symptoms for a long time. As pneumonia develops, the cough becomes painful, paroxysmal, and whooping cough. caused by irritation of the bronchial mucosa with viscous, difficult to separate sputum. , the mucus in the nose of patients is also viscous and sticky.

Pneumonic foci, atelectasis, areas of emphysema, pneumosclerosis create a motley clinical and radiological picture typical of M. The process in the lungs is always bilateral. Characterized by a protracted recurrent course of pneumonia, often with abscess formation and the early appearance of bronchiectasis. Some patients develop destructive pneumonia involving the pleura.

In severe cases of pulmonary syndrome, the process progresses steadily, and exacerbations often occur. quickly becomes purulent. Deformations of the chest are observed: barrel-shaped, keeled, rarely funnel-shaped. hard, sometimes amphoric (above cavities). Dry and moist rales are heard, with obstructive syndrome - dry wheezing. When sputum accumulates, often in lower sections lungs, weakened, little wheezing.

Symptoms of respiratory failure (Respiratory failure) gradually increase: at rest, cyanosis, tachycardia. Symptoms of cor pulmonale develop (cor pulmonale) , pulmonary and heart failure. Deformations of fingers and toes appear in the form of drumsticks, nails in the form of watch glasses. Children lag behind in physical development, dystrophic skin changes appear ( rice. 3 ), it becomes dry, peels off, thins out, becomes brittle, loses its luster, becomes thinner, acquires a grayish tint, thickens, easily breaks, flakes, and linear thickenings appear on them in the form of stripes and whitish spots.

X-ray examination reveals pulmonary emphysema, diffuse pneumosclerosis with fibrous compactions in the root zones ( rice. 4 ). On bronchograms, deformation of the bronchi is determined, their “choppedness”, convergence, cylindrical, saccular and teardrop-shaped ( rice. 5 ). Bronchoscopy reveals diffuse catarrhal-purulent. Damage to the bronchi is always bilateral, diffuse. In some patients, bronchi (Bronchi) are found V in the form of an additional bronchus, bronchomegaly, the departure of the bronchus of the middle lobe of the right lung from the upper lobe bronchus. The high frequency of malformations in M. indicates their connection with the underlying disease.

In children with pulmonary syndrome, external respiration is significantly impaired according to the obstructive-restrictive type; respiratory, metabolic or mixed acidosis develops early . With a milder course of pulmonary syndrome, the process proceeds according to the type of slowly progressing Bronchitis and with rare exacerbations, the children are satisfactory.

Intestinal syndrome is caused by a sharp decrease in the activity of pancreatic and intestinal enzymes. It is characterized by a violation of the breakdown and absorption of fats, proteins, and carbohydrates from food. In patients, stools become more frequent up to 2-5 times a day, become copious and fatty, and have a gray, sharp, foul-smelling stool. Sometimes it is dense, scanty (“sheep” feces), there is a tendency to constipation (possibly), which is caused by the increased viscosity of pancreatic and intestinal secretions and good absorption of water in the intestines. However, the color of the feces remains light gray, and a drop of fat is released at the end of the bowel movement. Children lose weight, despite being preserved. During scatological examination it is found in large quantities neutral, some fatty acids and soap, undivided muscle fibers and.

Meconium obstruction develops in the first day of a child’s life and is caused by the formation of dense viscous meconium plugs in the small intestine, sometimes extending up to 3-8 cm. If the plug is not washed away, then a section of the small intestine appears, from which the child, as a rule, dies.

Light erased forms of M. occur as chronic bronchitis, chronic pancreatitis and With enzymatic deficiency, chronic enterocolitis (see Enteritis) . In some cases, diabetes mellitus develops against the background of pancreatic sclerosis .

In many patients with M., an increase in the size of the liver, fatty, protein, or protein-fatty degeneration of hepatocytes is detected (according to autopsy, biopsy, and echography of the liver). These changes exist for a long time without clinical manifestations, while the levels of liver enzymes also remain normal. In some cases, liver damage can lead to cirrhosis, which is characterized by the slow progressive development of portal hypertension syndrome (see Portal hypertension) with long-term normal hepatocyte function. Liver cirrhosis develops much less frequently.

Metabolic nephropathies are often observed with M., which is manifested by hyperphosphaturia, oxaluria, proteinuria, cystinuria: against the background of these changes, it can develop. In patients with M., the adrenal cortex is noted, and delayed sexual development is characteristic.

Cystic fibrosis can be complicated by pleurisy, pneumothorax, lung destruction, hemoptysis, intestinal obstruction, rectal prolapse, diabetes mellitus, chronic cor pulmonale, secondary disaccharidase deficiency, and celiac disease syndrome.

Diagnosis diagnosed on the basis of medical history (complicated, early onset of the disease), clinical symptoms and laboratory results. Reliable M. is considered when a high content of sodium and chlorine is detected in sweat, a high concentration of sodium in the nail plates of the fingers. Pathognomonic for M. is the sodium and chlorine content in sweat in children under 1 year of age over 40 mmol/l, in children over one year and in adults - over 60 mmol/l; sodium in the nail plates of the hands over 80 mmol/kg(for any age).

When studying the sodium and chlorine content in sweat, to increase sweating, a skin area is treated with pilocarpine, which is why the test is often called pilocarpine. The skin of the inner surface of the forearm is cleaned with alcohol and distilled water, then two electrodes are applied to this area: a gauze pad moistened with a solution containing sodium chloride is placed under the negative electrode, and a gauze pad moistened with a 0.5% pilocarpine solution is placed under the positive electrode (anode). continues 10 min at current strength 4 mA(current strength is gradually increased from 0 to 4 mA), after which the current is gradually reduced and the electrodes are removed. The area of ​​skin on which the electrode with the pilocarpine pad was placed is treated with distilled water, dried, after which a piece of pre-weighed ash-free filter paper (3x4) is placed on it. cm). To prevent the evaporation of sweat, the filter paper is covered with plastic film, which is glued to the edges with an adhesive plaster. collected within 30 min, then the filter paper is removed with tweezers and immediately weighed to determine the amount of sweat absorbed into it. To obtain a reliable result, the amount of sweat must be at least 100 mg.

After weighing, filter paper is poured into a weighing bottle with 10 ml distilled water and leave to elute electrolytes for at least 4 h. Can be eluted up to 20 h, in order to carry out further research the next day, but you need to make sure that the lid in the bottle is thoroughly ground in and does not evaporate. The sodium concentration in the eluate is determined using a flame photometer, and the chlorine concentration is determined by titration using Mohr's method.

To determine sodium in nail plates, the method of Kopito and Shvakhman, modified by Veltishchev and Glotova, is used. For research, cut pieces of nails from the fingers should be used (in children under 1 year of age, from the hands and feet). They are cleaned, washed with distilled water, then dried in a thermostat 1 h at 37°. For hanging nails (10 mg) add 0.2 ml concentrated nitrogen acid, then put in a water bath until the nails are completely dissolved (2-3 min). Add 4.8 ml distilled water, mix thoroughly, then determine the sodium concentration using a flame photometer and convert it into mmol/kg nails Such a study is convenient in that it can be carried out in another medical institution, where there is fiery, and is indispensable in cases where it is difficult to obtain for research (children with eczema and other skin diseases).

In doubtful cases, in the presence of clinical signs of M. and concentrations of sodium and chlorine in sweat that are close to normal, a stress test with deoxycorticosterone acetate (DOXA) can be used. To do this, after determining the concentration of sodium and chlorine in sweat (pilocarpine test), a hypochloride diet is prescribed for 4 days (no diet is required in children under 2 years of age); on the 4th day at 20 h and on the 5th day at 8 h 0.5% oil solution of DOXA is administered intramuscularly (children under 6 months 0.2 ml, from 6 months. up to 3 years 0.4 ml, from 3 to 7 years 0.6 ml, from 7 to 10-12 years 0.8 ml, over 12 years old and adults 1.0 ml). In 4 - 6 h After the second injection of DOX, sweat is collected for re-examination. In children who do not suffer from M., the concentration of sodium and chlorine in sweat after a load with DOXA decreases by more than 25% compared to the initial level; in children suffering from M., it remains unchanged, decreases slightly, or even increases.

Differential diagnosis pulmonary form of M. is carried out with chronic pneumonia and hereditary lung lesions (idiopathic pulmonary hemosiderosis, Kartagener syndrome, chronic pneumonia in immunodeficiency states, Marfan's disease). The intestinal form of cystic fibrosis is differentiated from other syndromes of impaired intestinal absorption - Celiac disease (), Disaccharidase deficiency , Exudative enteropathy , intestinal dysbiosis. The main thing in the differential diagnosis is the study of electrolytes.

Treatment. The diet of patient M. should be age-appropriate, contain an increased amount of protein by 10-15% and a normal amount of fats and carbohydrates. At the same time, only easily digestible foods (butter and vegetable oil) are included in the diet. should not contain coarse fiber. In children with secondary lactase deficiency, milk is excluded. For severe intestinal syndrome and symptoms caused by insufficiency of various vitamins, it is prescribed parenterally.

In case of intestinal syndrome, enzyme preparations are used for replacement purposes: pancreatin, panzinorm, cotazim-forte, festal, etc. The enzyme depends on the severity of the disease and is selected individually. The criteria for dose sufficiency are the disappearance of abdominal pain, normalization of stool, and the absence of neutral fat during scatological examination. Enzyme preparations are taken with meals.

Treatment of pulmonary syndrome includes measures to reduce the viscosity of sputum and improve bronchial drainage, antibacterial therapy, combating intoxication and hypoxia, hypovitaminosis, and heart failure. To reduce the viscosity of sputum, inhalation of enzyme preparations (chymopsin, chymotrypsin, crystalline fibrinolysin) or mucolytic drugs, acetylcysteine, mucosolvin is used. To thin the sputum, acetylcysteine ​​and mucosolvin can be administered intramuscularly, and mucosolvin can also be administered orally. Bromhexine and mucaltin have a weaker diluting effect. To improve bronchial drainage, vibration of the chest is performed, therapeutic exercises, postural , v young children, sputum is removed with an electric suction.

In case of exacerbation of the pulmonary process, antibacterial therapy is prescribed for at least 3-4 weeks. are selected taking into account the antibiogram, but if this study cannot be carried out, then they are based on the fact that the most common causative agents of the inflammatory process in the lungs in patients with M. are staphylococcus and Pseudomonas aeruginosa. Along with antibiotics, antifungals (nystatin, chevorin) and antihistamines. During the period of exacerbation, UHF and microwave therapy is also carried out. and then electrophoresis of sodium and magnesium preparations (calcium preparations are contraindicated, because they increase pneumosclerosis); Prescribe multivitamins, to reduce pulmonary hypertension - aminophylline 7-10 mg/kg body weight per day orally (dose divided into 3 doses) for 4-5 weeks. from the onset of exacerbation. Drugs that improve myocardium are indicated: potassium orotate, cocarboxylase. For decompensation of the pulmonary heart, digoxin is used (1-1.5 mg/kg per day in terms of prednisolone, taking into account the daily rhythm of the adrenal glands for 3-4 weeks). the same dose is prescribed for rapid progression of pneumosclerosis, and for chronic adrenal insufficiency that has developed as a result of purulent intoxication and hypoxia - at a dose of 0.4 mg/kg per day with prednisolone, taking into account the circadian rhythm.

Children with M. are under the dispensary supervision of a local doctor and pulmonologist, because, despite the generalization of the process and changes in many organs and systems, damage to the respiratory system is observed in the majority of patients and it is this that determines the severity and prognosis of the disease. Parents must be trained in patient care and treatment methods such as massage, therapeutic, and aerosol therapy. The objectives of dispensary observation are monitoring the functional state of the bronchopulmonary, cardiovascular systems, gastrointestinal tract, kidneys, liver and the correct dose of enzyme preparations, timely implementation of restorative therapy during exacerbations of the disease, and in the period of remission - sanitation of foci of chronic infection. Treatment is carried out on an outpatient basis and at home, where the child can be provided with individual and excluded treatment. Only when in serious condition or the presence of complications is indicated. Intensive care performed in patients with respiratory failure of II-III degree, with decompensation of the pulmonary heart, with pleural complications, destruction of the lungs, hemoptysis is indicated for meconium obstruction, in the absence of effect from conservative therapy for intestinal obstruction in older children, sometimes with destruction in the lungs. For bronchiectasis, surgical treatment is not recommended, because the process is always common.

Children with cystic fibrosis receive all medications for outpatient treatment free of charge.

Sanatorium treatment is indicated for children with mild and moderate intestinal forms of M. For children with the pulmonary form of M., sanatorium treatment is useful if it is possible to create special groups. Patients with M. are recommended to be sent to local sanatoriums. The selection criteria are intestinal disorders when prescribing enzyme preparations, the absence of decompensation of the pulmonary heart and the inflammatory process in the lungs.

Staying patients with M. in preschool institutions is inappropriate. Attending school in good and satisfactory condition is possible, but an additional day off per week and free attendance at school on days of treatment and examination at the clinic (at the pulmonology center), and exemption from exams are required. The question of the possibility of vaccinations for children with M. is decided individually.

Children with M. are not removed from the dispensary register, but upon reaching the age of 15 are transferred under the supervision of a therapist to a clinic for adults.

Forecast with M. it is serious and depends on the severity of the disease, the age at which the first symptoms appeared (if the disease appeared in the first year of life, the prognosis is worse), early diagnosis and targeted treatment. is largely determined by the severity of the pulmonary syndrome (with chronic colonization of the lungs by Pseudomonas aeruginosa, the prognosis is worse).

In recent years, due to improved diagnosis and earlier prescription of adequate therapy, the life expectancy of patients has increased. However, due to the chronic course of the disease, patients require constant monitoring and treatment. If in the 50s 80% of patients died before the age of 10 years, then in the 80s it was about 36% (the majority of deaths were under the age of one year). The earlier the diagnosis is made, targeted treatment is started and relapses of the disease are carried out, the more favorable the prognosis.

Bibliography: Congenital and hereditary lung diseases in children, ed. Yu.E. Veltishcheva et al., p. 170, M., 1986; Reiderman M.I. Cystic fibrosis, M., 1974, bibliogr.; Fadeeva M.A. Differential and principles of treatment of cystic fibrosis in children. Question ocher mat. and children, vol. 29, no. 11, p. 3, 1984.

Rice. 1. Microscopic specimen of the pancreas in a mixed form of cystic fibrosis: 1 - interlobular and intralobular ducts dilated and filled with acidophilic layered secretion; 2 - proliferation of connective tissue. Hematoxylin and eosin staining; ×80.

X-ray of the chest (direct projection) of a 3-month-old child with a mixed form of cystic fibrosis: emphysema, pneumosclerosis, infiltrative process in the upper lobe of the right lung">

Rice. 2. Plain X-ray of the chest (direct projection) of a 3-month-old child with a mixed form of cystic fibrosis: emphysema, pneumosclerosis, infiltrative process in the upper lobe of the right lung.