Life of children with cystic fibrosis. Tips and practical recommendations from a pediatric gastroenterologist. How to treat the disease. Therapy for respiratory diseases

Good day, dear reader. This article will be of interest to those people who are interested in the question of cystic fibrosis, what kind of disease it is (in a young child and in older children). In this article we will also talk about diagnostic methods, possible consequences, as well as methods of treating this disease.

Classification

The word "cystic fibrosis" comes from two words meaning "mucus", "viscous". The cause of the pathology is a genetic abnormality. In such children, damage is observed in the seventh chromosome, namely in its long arm. The baby will definitely be born with this deviation if both parents are carriers of the disease gene.

With this disease, the glands of the digestive organs and respiratory system, as well as genital and salivary, sweat.

I present to your attention cystic fibrosis in children, photo of the disease:

1. Healthy lung.
2. Cystic fibrosis.

This disease distributed to individual species, based on which organs became the main source of damage.

Intestinal. Characterized by a lack of secretory function of the gastrointestinal tract. It manifests itself most clearly when the baby is transferred to another type of feeding and begins.
Pulmonary. Characterized by a change in consistency, difficulty with sputum discharge, inflammation is observed, and mucus stagnates.
Mixed. Characterized by obvious manifestations from the digestive and respiratory organs.
Meconium ileus. It is observed if there is no trypsin in the body. The condition is characterized by the fact that thin section meconium accumulates in the intestines. This disease is diagnosed even in the first days after the baby is born.
Atypical form. Observed individual pathologies in the exoglands, an asymptomatic course is also possible.

Characteristic symptoms

Lack of appetite

When considering cystic fibrosis in children and its symptoms, it is worth paying special attention to the signs of mild and severe forms, and also consider the characteristics of infants.

Light form. Characterized by:

presence of diarrhea;
pale skin;
appetite may decrease;
occasional vomiting is possible, mainly due to severe coughing;
cough is more common at night.

Initially, cystic fibrosis may be mistaken for an acute respiratory viral infection or a digestive disorder. A accurate diagnosis it is possible to establish only after, when changing feeding or introducing complementary foods, more severe symptoms. The manifestations will be especially acute when consuming soy mixtures.

Severe form:

the child experiences prolonged coughing attacks, which often occur, possibly from the first days after birth;
possible separation of sputum of viscous consistency;
frequent regurgitation, vomiting may occur;
Often, pneumonia or bronchitis develops against the background of the disease, which have a severe course.

Signs in newborns

Severe cough, which may be accompanied by vomiting.
Attacks of suffocation.
Poor weight gain.
Possible intestinal obstruction due to retention of original feces.
Refusal to eat.
Lethargy.
Saltiness of the skin.
Paleness, dry skin.
Vomiting bile.
Prolonged jaundice.

Features of the disease in infants

Pale skin is one of the symptoms of cystic fibrosis

Bloating.
Liver hypertrophy.
Foul-smelling feces of thick consistency with a greasy sheen.
The rectum may prolapse.
Dry and grayish skin tone.
Delay in physical development.
Fingers like “drumsticks”.
Dyspnea.

Symptoms of children under 12 years of age

Severe cough with cystic fibrosis

Paroxysmal cough.
The presence of a purulent component in the sputum.
Loose stools.
Rectal prolapse.
Frequent or persistent shortness of breath.
Intestinal obstruction.
The fingers are shaped like “drum sticks”.
Enlarged liver.
Symptoms of dehydration.
Chronic sinusitis.
Pancreatitis.
Bronchiectasis.

Features of adolescence

Chronic fatigue

In addition to the main signs of the disease that are observed in toddlers younger age, the following symptoms are also present:

rapid fatigue from physical activity;
inhibition in sexual development;
chronic inflammation of the sinuses;
when the liver is damaged, cirrhosis develops;
formation of polyps in the nasal passage;
possible accumulation of fluid in the abdominal cavity;
phlebectasia of the esophagus;
frequent bowel movements, presence of foul-smelling stool.

Exacerbation

An increase in temperature is one of the signs of exacerbation

If observed acute period illness, the child must be urgently hospitalized. Parents may suspect a deterioration in his condition due to the presence of the following signs:

a sharp decrease in appetite;
severe weakness;
increased drowsiness;
increase in body temperature;
severe abdominal pain;
a clear change in the process of defecation;
increased cough.

Diagnostics

Sweat test. Based on a study of the presence of chlorine and sodium ions. The material is collected after electrophoresis. Normally, the concentration of these ions should not be higher than forty mmol per liter. You need to know that in children in the first week of life, this test often gives a positive answer in the presence of certain pathologies.
Determination of the level of immune trypsin in a dried blood spot. With this pathology, the IRT indicator will exceed the acceptable limit.
Kaprogram. With cystic fibrosis, increased amounts of fat, muscle fibers, starch grains and fiber will be found in the stool.
As an option for a screening test, albumin levels are determined. The newborn's stool is collected for testing. This indicator should not exceed 20 mg per gram of dry weight.
Clinical analysis of blood and urine.
X-ray of the chest organs.
Microbiology of sputum.
Bronchoscopy.

It is very important to carry out differential diagnosis in order to exclude a disease with similar symptoms:

enteropathy;
bronchial asthma;
pneumonia.

Possible complications

In the absence of proper treatment or with late diagnosis, serious consequences may develop. So, any form of cystic fibrosis can cause complications in the form of periostitis, arthritis, and even affect the physical or mental development, reproductive organs.

Possible consequences of the pulmonary form:

pneumothorax;
hemoptysis;
pulmonary hemorrhage may begin;
possible pleural empyema;
pleurisy.

The intestinal type of cystic fibrosis can provoke the following consequences:

intestinal obstruction;
diabetes;
celiac disease;
stomach bleeding;
urolithiasis may develop;
cirrhosis of the liver.

Cystic fibrosis in newborns sometimes leads to:

possible intestinal perforation;
intestinal obstruction;
development of peritonitis.

Treatment

This disease requires lifelong therapy, and complex treatment is important. Treatment for cystic fibrosis in children and the types of medications will depend on the form of the disease.

Medical procedures can be aimed at:

replacement of lack of enzymes in the pancreas;
removal or dilution of viscous sputum from the bronchi;
replenishment of missing microelements and vitamins;
elimination infectious process in the lungs;
dilution of bile.

Parents should be prepared for the fact that drugs will be prescribed in doses that may exceed age standards. The fact is that with cystic fibrosis, the absorption of medications is difficult.

The doctor will prescribe enzyme replacement therapy. You may be prescribed Creon or Pancitrate. The required dose of the drug is selected individually by the doctor when communicating with each child individually. Taking these medications helps children grow and develop, as well as gain weight normally.
Taking antibiotics. These medications are directed against pathogenic microorganisms that multiply in the lungs and bronchi. The type of antibiotics needed is determined by sputum culture and the sensitivity of microorganisms. Sowing is carried out once every three months, even if there is no exacerbation. A course of antibiotics is prescribed for no less than two to three weeks.
Mucolytic therapy. Taking these medications is necessary to thin the mucus. Children are most often prescribed Pulmozyme.
Kinesitherapy. This is a set of breathing exercises. It is important to conduct daily exercises. The duration of daily exercise may vary depending on the condition of the baby. You can use the services of specialists or learn how to do this gymnastics yourself.
Hepatoprotectors. These drugs significantly improve the functioning of the liver and affect the dilution of bile. Ursofalk may also be prescribed - it will help prevent the development of cholelithiasis or cirrhosis of the liver.
Vitamin therapy.

Nutritional Features

Drink plenty of fluids

With cystic fibrosis, diet is of great importance.

It is important that the calorie content of the foods consumed is 15 percent higher than age norms.
It is necessary that the diet contains large amounts of protein and very little fat.
It is important that the dishes are salted, especially during the hot season.
Mandatory drinking plenty of fluids. Much attention is paid to drinks with a high concentration of sugar.
It is important to take foods containing vitamins, special attention should be paid to vitamins A, K, E, D.

Now you know what children with cystic fibrosis are like. The parents’ task is to pay attention to the presence of dubious signs in a timely manner, go to the clinic and follow all the doctor’s instructions. Don't forget about the possible consequences. Take care of the health of your kids!

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What kind of disease is this? Cystic fibrosis is a genetically determined systemic disease, characterized by damage to the exocrine glands (exocrine glands) that control external processes vital functions - sebaceous, sweat, milk and lacrimal glands, releasing their secretions onto the external surface of the body and into its internal environment.

This is the most common of hereditary diseases. Cystic fibrosis develops against the background of a mutation in the gene responsible for regulating the active transport of electrolytes (mainly chlorine) through the plasmatic structure (membrane) of the cells lining the ducts of the exocrine glands. As a result of mutation, structural and functional changes occur in the synthesized protein.

This process leads to the fact that the secretion secreted by the glands acquires a thick and viscous structure. Removing it from the body causes certain difficulties and negatively affects certain organs. Violations provoke various kinds of changes in organs even during the intrauterine development of the child.

Glandular tissue organs is gradually replaced by connective tissue, cells (fibroblasts) secrete a specific substance that stops the functions of the ciliated epithelium, which plays an important role in the removal of secretions. Changes in organs continue after the birth of a child, acquiring an increasing character, manifesting themselves:

in 20% of cases the bronchopulmonary form of cystic fibrosis;
almost 10% are in shape congenital obstruction small intestine(blockage of the ileum - meconium ileus);
in 5% of cases – intestinal form;
up to 65% - a mixed form of pathology (mainly pulmonary intestinal.)

In some cases, the disease has other forms of manifestation:

hepatic – with characteristic development abdominal dropsy(ascites) and necrosis and dystrophic change in liver tissue (cirrhosis):
electrolyte, characterized by signs of an isolated disturbance (hydration or dehydration - dehydration, or excess water in the body) of electrolyte balance;
erased;
atypical.

The clinical picture of cystic fibrosis is characterized by phases of remission and exacerbation, which can manifest themselves in a low-active or moderate course.

If during the “laying in” of the child’s body there were chromosomal mutations, nothing can be fixed. Therefore, cystic fibrosis is an incurable disease, but far from fatal - although it was recently considered so. At proper treatment cystic fibrosis, it is possible to extend the life of patients for many years.

To assess the seriousness of the pathology and understand what kind of disease cystic fibrosis is, the symptoms and clinical signs of the disease that you need to pay attention to will help.

To one degree or another, the disease leads to damage to all exocrine glands. This is what causes the varied manifestation of symptoms of cystic fibrosis in children - from signs of diarrhea to asphyxia. This whole wide symptomatic range of signs of the disease makes parents wary and pay attention to them.

The first symptoms of cystic fibrosis usually appear in the first year of a child’s life. Very rarely (in 10 babies out of a hundred) they are diagnosed immediately after birth.

All mothers are familiar with the first bowel movement of a newborn baby. It differs significantly from normal feces both in color (dark, like tar) and in consistency, reminiscent of plasticine. In neonatology, such feces are called “meconium”. It is these original feces that can clog the intestine. This is one of the first symptoms of cystic fibrosis in newborns.

Due to the thick mucous digestive secretion, the normal passage of meconium is disrupted. In one area of the intestine it stagnates, blocking the passage of gases and milk residues. Above the blocked area of the intestine, it stretches, sometimes causing damage to the intestine and the penetration of harmful toxins into the child’s blood.

Without timely intervention, intestinal rupture may occur and lead to the development of inflammatory processes in the abdominal cavity. In this case, mortality is possible, provoked by a large number of toxins entering the blood.

A child is not able to complain about abdominal pain, but cystic fibrosis in an infant can be diagnosed by the baby’s behavior and external signs:

For a long time, newborn babies have no stool and gases do not pass away.
The child cries hysterically and his cry intensifies when he feels the abdomen. He can lie motionless, as the slightest movements are reflected in pain.
Upon examination, you can see a swollen abdomen, and sometimes even an intestinal outline with a characteristic compaction.
Upon palpation, an area of obstruction with a dense and swollen intestinal wall is easily identified. Can be compared with the normal underlying segment of the intestine.

At the slightest suspicion of cystic fibrosis, an urgent assessment of the child’s condition by a doctor is necessary.

Symptoms of cystic fibrosis in infants usually appear at six months of age. Their character is varied, but among the main ones are lack of weight gain, developmental delay and problems in the respiratory system. A serious pathology can be suspected only if there are a combination of signs caused by the child’s obvious weight loss, disturbances in respiratory function and the presence of constant problems with defecation.

Other reasons may also hinder the development of a child: an unbalanced diet, past infections in the gastrointestinal tract, or endocrine diseases. Changes occur in the structure of feces - it can be liquid, change its consistency to thick, acquiring fat and shine.

Respiratory disorders manifest themselves:

A persistent dry cough that weakens with treatment and reoccurs after treatment. Due to the constant lying position, coughing intensifies at night, which takes on a paroxysmal character.
Episodes of asphyxia (suffocation), which occurs due to blockage of a section of the respiratory tract with thick mucous secretion. The child is choking and coughing violently. When you cough, a clear or dirty green mucus plug may come out, either clear or infected with bacteria.
Frequent development of varying complexity of rhinitis, pharyngitis, bronchitis and other respiratory infections. Not infrequently, the disease can be disguised as signs of bronchitis, which occurs in a chronic form with frequent exacerbations that are difficult to treat.

Without adequate treatment, the symptoms of cystic fibrosis gradually develop as the child grows older and take on a relapsing, chronic nature. But with effective preventive therapy, the disease can be controlled and relapses can be prevented.

Characteristic symptoms of cystic fibrosis in adults

Even despite the most effective preventive treatment for the disease in childhood, in adults, the symptoms of cystic fibrosis are supplemented by new manifestations that reflect damage to various organs and systems of the body:

violations of the act of defecation;
swelling of the venous vessels of the abdomen, legs and esophagus;
swelling all over lower half bodies.

Rarely, but as a result of cystic formations in the main exocrine gland (pancreas), it develops. There are signs of liver failure that develop against the background of replacement of the glandular tissues of the organ with connective tissue, causing:

severe manifestation of hemorrhages;
attacks of fatigue and weakness;
migraines and nausea;
development of swelling in any area of the body.

On the part of the respiratory system, disorders are manifested by signs of atelectasis - focal “collapse” of lung tissue caused by blockage of the bronchial branches with mucous secretion. This condition is accompanied by:

signs of dyspnea and dry cough;
infections in the respiratory system caused by the addition of infectious agents;
manifestation of hemoptysis associated with processes of disruption of the bronchial mucosa.

Problems in respiratory functions are accompanied by the gradual overgrowth of small bronchial branches with thick mucous secretion. At the same time, gas exchange processes in the lungs and heart are disrupted. At first, the organs successfully cope with the additional load. Gradually, the heart's compensatory reserve is depleted. It increases in size, its functionality is exhausted.

There is stagnation of blood in the cavity of the heart and lungs, causing the development of PHF (pulmonary heart failure) with characteristic symptoms:

shortness of breath – occurring at the beginning, after any exertion. As the disease progresses, it occurs involuntarily, without any influence;
cough with phlegm, caused by stagnation of blood in the lungs with subsequent sweating of plasma;
pale skin caused by lack of oxygen;
changes in the configuration of the distal digital phalanges and nail plates.

The last two signs indicate a severe form of SUD, which is impossible to get rid of.

Cystic fibrosis in men can cause infertility. Despite the normal secretion of seminal fluid, its release during ejaculation becomes impossible due to the formation of a mucus plug in the ducts.

Most of these signs of cystic fibrosis are self-limiting medications, but in many cases, changes in some systems and organs are irreversible. That's why timely diagnosis and treatment of cystic fibrosis in children and adults can prevent the development of severe disease.

Diagnosis of cystic fibrosis, tests and analyzes

The standard method of laboratory diagnosis of the disease is tests for cystic fibrosis:

1) Test to detect the level of immunoreactive trypsin. It is carried out in the first month of a child’s life. Indicators exceeding permissible level up to a dozen times or more are diagnostic criterion diseases. False data can be caused by hypoxia suffered at birth in a child.

2) A sweat test that detects the level of sodium and chlorine concentration in a portion of sweat.

3) It is possible to detect the disease in a child in the prenatal period at ten weeks of pregnancy using DNA testing. Blood samples for analysis are taken from the umbilical cord. Such research is also carried out on parents at risk.

Instrumental diagnosis of cystic fibrosis in children and adults is very extensive. It is carried out to identify indirect symptoms that may indicate a disease. The main ones:

bronchographic examination of lung tissue and bronchial tubes;
X-ray and CT scan of the sternum, allowing to identify changes in bronchopulmonary tissues (mucous accumulations, cystic formations, inflamed areas and swollen lymph nodes);
assessment of respiratory functions using spirography;
Ultrasound of the peritoneal organs;
coprogram method, which allows you to assess the digestive functions of the gastrointestinal tract system;
methods of fibrogastroduodenoscopy and other techniques according to indications.

When a pulmonary form of cystic fibrosis is detected, tests are carried out to identify the fungal pathogen - spergillosis. The test is positive if three criteria for the disease are detected - the presence of infiltrate in the pulmonary fields and “E” immunoglobulin.

Treatment of cystic fibrosis in children and adults, drugs

What does the term “treatment” mean for such a pathology? As such, there is no single, approved protocol for the treatment of cystic fibrosis in children and adults. Complex symptomatic therapy is carried out to prevent complications and maintain normal life processes in the body in the form of ordinary medical procedures and prescription of drugs:

Inhalation and injection antibiotic therapy procedures for inflammatory processes. The choice of drug is based on the sensitivity of the isolated pathogen.
Internal administration and inhalation of drugs that help thin sputum and restore the functions of the ciliated epithelium in the respiratory tract. These are the drugs "Fluifort", "ACC", "Pulmozim" or "Amiloride".
Antibiotics are directly introduced into the bronchi using the bronchoscopic method, followed by suction of thick secretions. Bronchospastic syndrome is relieved by inhalation of bronchodilators in the form of Epinephrine, Isoprenaline, Berodual, Theophylline, Theobromine, Nedocromil or Ketotifen.
To quickly stop inflammatory processes, anti-inflammatory drugs can be used - Ibuprofen, Naproxen, Sulindac, Ketoprofen.
An individual daily and lifelong course of kinesiotherapy is selected - complex breathing exercises that help with the discharge of sputum.
For symptoms of damage digestive functions in the gastrointestinal tract, a standard course of drugs with enzymes is prescribed - “Pancreatin”, “Pancitrat”, Mezima-forte”, “Creon”. For symptoms of liver damage - “Enerliva”, “Gepabene”, “Glutargin”, “Essential”.
In case of severe damage to the liver and lungs, the patient is offered an organ transplant.

It is mandatory to take vitamin-mineral complexes and a nutritious, high-calorie diet, enriched with protein foods and fats, with the mandatory use of drugs with enzymes.

The prognosis for treatment of cystic fibrosis depends on the duration clinical manifestations and from the absence or presence of complicated processes. The outcome is influenced by early diagnosis and the effectiveness of targeted therapy. Today, at modern methods maintenance therapy, mortality is observed only in 30 cases out of 100. Many patients live up to 50 years or more, have a full-fledged family and children.

Cystic fibrosis in children (cystic fibrosis) is an inherited disease that affects the function of the digestive and respiratory systems. Manifestations are associated with excessive formation viscous secretion, clogging the path.

There are several forms of the disease depending on changes in the internal organs and their severity:

Pulmonary.
Intestinal.
Meconium ileus.
Erased.
Mixed.
Atypical.

The division into forms is arbitrary, which depends on the addition of disorders in other organs and systems as the disease progresses. The first signs are found already in early age(up to 2 years of life). The earlier symptoms appear, the more severe the disease and the more serious prognosis. With timely detection of cystic fibrosis in a child and adequate treatment Previously, life expectancy was 35-40 years, but now it has increased significantly (up to 60-70 years). One of the features of the disease is the altered composition of sweat. It contains a lot of sodium and chlorine, giving it high salinity.

Pulmonary form

The process involves both lungs. Changes in this form occur in 15-20% of children with cystic fibrosis. Mild course The disease is manifested by symptoms of bronchitis. It rarely worsens, progresses slowly and does little to disrupt the child’s quality of life.

Severe cases are characterized by symptoms of pneumonia. Dryness is a concern at first paroxysmal cough. As the condition worsens, it becomes painful and whooping cough-like. This is due to irritation of receptors in the mucous membrane of the respiratory tract by viscous sputum. It lingers in the lumen for a long time and is therefore easily infected by microorganisms. This condition leads to inflammation.

In mild cases of cystic fibrosis, it resembles bronchitis, and in severe cases, it resembles pneumonia with difficult to expectorate sputum.

Gradually, the bronchi narrow and eventually become completely blocked. Airway obstruction aggravates the inflammatory process. Cystic fibrosis of the lungs and bronchi gradually becomes chronic.

Certain areas of the lungs collapse (atelectasis) and are excluded from gas exchange. These changes in tissues can straighten out in some areas, and form even more in others (migrating atelectasis). The peculiarity of such areas is the absence of breathing over them, which is confirmed by listening to the lungs. The formation of dense fibrous tissue in place of the pulmonary tissue occurs early.

Over time, respiratory failure appears with a gradual increase. Then irreversible changes occur in cardiovascular system(heart failure). The fingers become deformed and take on the shape of drumsticks. Nails peel easily, become covered with white stripes and resemble watch glasses.

Cystic fibrosis of the lungs is first complicated by respiratory failure, which is later joined by cardiac failure.

Intestinal form

The intestinal form of cystic fibrosis in children manifests itself even before birth. As an isolated variant, it occurs in up to 5% of all cases. During the prenatal period, the first changes in the pancreatic ducts develop. They become clogged, preventing enzymes from entering the intestines. Under their influence, the iron digests its own tissues. Because of this, in the first year of a child’s life, changes are detected in the pancreas in the form of fibrosis and cyst formation.

Most often, the first clinical symptoms are observed in infants. The onset of the disease often coincides with the introduction of complementary foods or the beginning artificial feeding. Externally, the child looks thin with preserved or increased appetite. This is due to a decrease in the activity of pancreatic and intestinal enzymes. Their function is to break down the food eaten. Viscous digestive juice cannot cope with large amounts of incoming proteins, fats and carbohydrates.

A long retention of food gruel in the intestines creates a good background for activating fermentation processes. The child suffers from increased gas formation and bloating.

Symptoms of cystic fibrosis in children include: salivary glands. The secretion becomes viscous, which causes dry mouth and makes chewing food difficult. Normal digestion processes are disrupted and manifest as delays in physical development. They appear:

copious, light and soft stools.
putrid smell feces.
rumbling and abdominal pain.

Symptoms of impaired absorption of nutrients from the intestinal wall (malabsorption) gradually appear.

Mixed form (pulmonary-intestinal)

Cystic fibrosis most often occurs in children in mixed form(up to 70% of cases). It flows more severely than the others. Changes in the digestive and respiratory tracts are equally observed. Children do not gain weight well in the first six months. They are bothered by a constant, painful cough, sometimes with vomiting.

Meconium form

Newborn children with cystic fibrosis may show signs of the meconium form of the disease in the first days of life. Its occurrence is on average 10-15% of all other forms of this disease. Meconium (original feces) becomes viscous and clogs the intestinal lumen for 2-8 cm. Long-standing plugs lead to tissue necrosis and death of the child.

Atypical form

Symptoms of cystic fibrosis in children with an atypical course are associated with changes in the liver. Long time the disease is asymptomatic. Upon examination, the child is found to have increased size. In the blood test, liver enzymes remain unchanged. When the disease is advanced, cirrhosis slowly forms.

Erased form

Cystic fibrosis can have a mild course. The occurrence of this form among patients is up to 2%. The symptoms resemble chronic pancreatitis, enterocolitis or diabetes mellitus.

Other manifestations

Changes are often observed in reproductive system. The testicles in boys decrease in size and become denser. In girls, fertility decreases, but the ability to become pregnant remains intact. During childbearing age, sperm formation in men is not impaired, but ejaculation is absent due to blockage of the ducts.

Diagnostics

To establish a diagnosis it is necessary specific list events. Diagnostics includes:

Blood chemistry.
Stool analysis (coprogram).
Sputum analysis.
Sweat test.
Genetic research.
Ultrasound of the fetus.
X-ray of the chest organs.

A biochemical blood test determines an increase in the level of sodium and chlorine, bilirubin or enzymes. Changes in indicators depend on the form of cystic fibrosis.

When analyzing stool, muscle fibers, fat and fiber are found. This gives the stool a “greasy” character (thick and sticky stool).

If you manage to take sputum for examination, the presence of bacteria in it indicates green color. The presence of inflammation is indicated by leukocytes in the material.

A sweat test is carried out to determine the concentration of electrolytes in the secretion. The analysis is carried out for children older than 7 days, because Before this period, false negative results may be obtained. There are known cases of a temporary increase in electrolytes against the background of complete health. This is associated with inadequate social education of the child, and is also observed when anorexia nervosa. A false positive result is recorded if there are errors during the test.

The diagnosis can be confirmed after genetic testing. It is performed at 3-4 weeks of the baby’s life. Children who have clinical symptoms, characteristic of cystic fibrosis. Their sweat test is negative or is upper limit norms.

Genetic testing reveals a defective enzyme that leads to a thickening of the body's physiological secretions.

A woman is also referred for genetic testing if an ultrasound of the fetus reveals an increase in echogenicity (density assessment) in its intestines.

X-rays reveal changes in the respiratory system in the form of:

dilated bronchi;
accumulations of mucus in the lumen;
inflamed areas;
enlarged lymph nodes.

Newborn screening helps to detect cystic fibrosis and other hereditary pathologies in a timely manner. To do this, blood is taken on the 4th day of the child’s life (on the 7th day in premature babies) from the heel.

Treatment of cystic fibrosis

Once a diagnosis of cystic fibrosis has been established, treatment is carried out comprehensively and for life. Symptomatic therapy is aimed at maintaining the functions of impaired organs. It includes:

Dieting.
Taking medications.
Kinesiotherapy.
Of necessity surgery.

Children with conditions that cannot be controlled conservative therapy, are sent for surgical treatment. By vital signs Transplantation of organs that are unable to perform their functions (liver, lungs) is carried out.

Nutrition for cystic fibrosis

For feeding infant It is preferable to use the natural method. Mother's milk contains necessary for the child substances that protect the body. In the absence of milk, adapted formulas (Alfare, Pregestimil) are used - they are better absorbed compared to non-adapted ones.

Meals in adolescence should be high in calories (calorie content is 1.5-2 times higher compared to healthy children). Be sure to include seafood in your diet. Protein products should prevail in the diet. Limit complex carbohydrates. Fats may not be excluded provided they are taken enzyme preparations. It is especially important to follow a diet for children with the intestinal form of cystic fibrosis. The child's diet includes:

eggs;
meat;
fish;
nuts;
oil;
cereals;
potato;
sweet drinks and fruits.

Additionally, 1-5 g of salt are introduced into the diet of a child with cystic fibrosis. You need to drink at least 2 liters of water to replenish the level of lost fluid excreted through sweat.

Children with cystic fibrosis are prohibited from vegetables containing coarse fiber. Vitamin complexes with the obligatory content of A, E, D, K are prescribed.

Drug therapy

Enzyme deficiency is compensated for with the drugs Creon and Panzinorm. The dose for each child is prescribed individually. The medicine is taken before meals. Replacement therapy eliminates pain in the abdomen, normalizes stool and weight. Hepatoprotectors (Essentiale, Gepabene) restore impaired liver function.

Antibacterial drugs are aimed at combating inflammation in the lungs. 3rd generation cephalosporins and fluoroquinolones are prescribed, taking into account the results of bacteriological culture.

Mucolytic drugs (Ambroxol, Carbocisteine) are used for daily use. They thin out sticky mucus and facilitate elimination. As an inhalation method of delivery to the respiratory tract, 7% sodium chloride is prescribed through a nebulizer. Salbutamol and Fenoterol have a quick effect in relieving asthma attacks.

In newborns, meconium ileus is aimed at dissolving plugs. To do this, a 5% solution of Pancreatin is taken orally or administered through an enema.

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

The cause of the disease is the disruption of the formation of mucous secretions by all internal organs– lungs, intestines, etc.

What is cystic fibrosis

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

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

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

Manifestations of cystic fibrosis

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

Signs of cystic fibrosis in infants

Meconium ileus. Meconium is the original stool of a dark, almost black color, from digested during intrauterine development particles of amniotic fluid. Normally, a newborn’s stool appears on the 1st or 2nd day of life. In cystic fibrosis, the meconium becomes too thick and sticky to pass through the intestines and eventually blocks the intestines completely. Despite regular feeding, the newborn does not have stool in the first days of life, and the child is restless, bloated, tense and painful when touched.
Poor weight gain with adequate nutrition. This symptom occurs most often in newborns. Thick mucus blocks the pancreatic ducts, preventing digestive enzymes from entering the intestines and participating in the breakdown of nutrients, primarily fats and proteins. Vital nutrients are not absorbed in the intestines and do not enter the body, thereby slowing down growth and weight gain. The risk of a lack of fat-soluble vitamins (K, D, A, E) in the body increases.
"Salty Skin". Pathological changes epithelium of the sweat glands lead to their incorrect functioning and the release of altered, more salty sweat. When kissing their children, parents feel an unusual “saltiness” of the skin.

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

Main symptoms of the respiratory system

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

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

Gastrointestinal symptoms

Dry mouth, absence or very little saliva. The reason is involvement in the process salivary glands and decreased saliva secretion. Mucous membrane oral cavity becomes dry, easily injured, often cracks and bleeds.
Frequent, long-term constipation caused by impaired movement of food through the intestines due to the lack of secretions that moisturize the intestinal wall.
A large amount of undigested fats in the intestinal contents leads to increased gas formation and bloating. The stool is foamy, interspersed with fat and an unpleasant odor.
Feeling of nausea, loss of appetite.
Violation of the breakdown and absorption of proteins and fats, a constant lack of nutrients ultimately leads to malnutrition, low weight growth and, as a consequence, to a delay in the psychomotor and physical development of the child.

Diagnosis of cystic fibrosis

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

He allows for 100% make a diagnosis of cystic fibrosis.

However, there are simpler indirect diagnostic methods:

Determination of the amount of immunoreactive trypsin is a screening diagnostic method to which all newborns are exposed in the first days of life in many countries. The method has good reliability, with positive result It is necessary to repeat the test at 3-4 weeks of life.
Sweat test with pilocarpine. Pilocarpine, a substance that promotes sweating, is injected into the skin using iontophoresis. The sweat released is then collected and analyzed. A large amount of chloride in the secretion of the sweat glands almost certainly indicates cystic fibrosis.
Additional diagnostic methods that determine the degree of involvement of a particular organ: lung radiography, sputum analysis and culture, determination of nutritional status, stool analysis, coprogram, spirography (assessment of respiratory system reserves).

Treatment and proper lifestyle for cystic fibrosis

Nutritional Features

The diet should be rich in proteins and high in calories because most of nutrients will be lost. Children with cystic fibrosis actually need to eat twice as much to meet all their needs.
Taking vitamin-mineral complexes. Be sure to consume fat-soluble vitamins (A, E, D, K), since they are not absorbed in the intestines along with fats. Lack of vitamin K leads to poor blood clotting, vitamin D – to softening of bones and pathology skeletal system generally.
Constant intake of enzyme preparations. Deficiency of pancreatic enzymes must be at least partially compensated. Therefore, before each meal, for normal digestion, you need to take tablets of pancreatic enzymes.

Fighting pulmonary problems

Taking antibiotics to fight pathogenic bacteria. This can be either tablets or intramuscular or intravenous injections. Due to the constant stagnation and infection of sputum, antibacterial therapy in patients with cystic fibrosis is frequent, sometimes almost constant. It depends on the condition of the lungs and the course of the infectious process.
The use of bronchodilator inhalers is important when frequent attacks shortness of breath and bronchial obstruction (blocking the lumen of the bronchus).
Without signs of a pronounced infectious process, doctors recommend flu vaccination. In the midst of an epidemic, vaccination will help protect against acute respiratory diseases.

Regular wet cleaning of the apartment, minimizing the child’s contact with dust, dirt, household chemicals, fire smoke, tobacco smoke and other factors that irritate the respiratory tract.
Drink plenty of fluids. This recommendation is especially relevant for young children, as well as for diarrhea, in hot weather or during excessive physical activity.
Moderate physical activity, swimming, light jogging fresh air, any general strengthening measures.
Clearing the bronchi and lungs of viscous mucus using percussion (tapping) and postural drainage methods. The doctor should explain the technique for performing these simple manipulations. The essence of the methods is to position the child so that the head end is slightly lower, and perform sequential finger tapping of all areas above the lungs. Sputum comes out much better after such exercises.

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

Cystic fibrosis is one of the most common hereditary diseases that occurs almost all over the world. However, its serious study began only in the 40-50s of the last century. The disease is diagnosed in children under 2 years of age. Why is this pathology dangerous?

What is cystic fibrosis in children

Cystic fibrosis is a hereditary systemic disease accompanied by damage to the exocrine glands (exocrine glands).

This is interesting! The name of the disease comes from the Latin words mucus (“mucus”) and viscidus (“viscous”).

In cystic fibrosis, thick, sticky mucus accumulates in the airways

Cystic fibrosis develops due to a mutation in the CFTR (cystic fibrosis transmembrane regulator) gene, located on the seventh chromosome. This mutation leads to dysfunction of a protein that is involved in water-salt metabolism and regulates the passage of sodium and chlorine (that is, salts) through cell membranes, resulting in cells losing these elements.

The gene “responsible” for cystic fibrosis was found only in 1989.

This disease affects all organs that produce mucus: bronchi and lungs, pancreas and liver, sweat and salivary glands, intestines, gonads. Cystic fibrosis is one of the most common genetic disorders; today about 1000 types of mutations of this gene are known, which causes a varied clinical picture and individual course of the disease in each child. The disease is diagnosed in utero or before the age of 1-2 years. Cases more late diagnosis very rare.

Most often, cystic fibrosis is diagnosed in children under one year of age.

This is interesting! Every year in Russia 300 children are born with cystic fibrosis (1 child per 10,000 newborns), in the USA - 2,000 children (7-8 children per 10,000 newborns), in general in the world - over 45,000 children.

The risk of a gene mutation does not depend on the gender of the child; boys and girls are equally susceptible to it.

In Russia, for many years, the treatment of children diagnosed with cystic fibrosis was not given due attention; only in the 90s of the last century did federal and regional centers to combat this disease. The average life expectancy of people with cystic fibrosis is 16-25 years.

Features of cystic fibrosis in children (video)

Causes and forms of the disease

The only cause of cystic fibrosis is a genetic failure. The disease is inherited in an autosomal recessive manner, that is, both parents must be carriers of the “broken” gene. In this case, the probability of having a sick child is 25%, and the probability that he will be a carrier of the defective gene is 50%. If only one parent is a carrier, the child cannot be born sick: with a 50% chance he will be a carrier, and with a 50% chance he will be born healthy.

Autosomal recessive inheritance pattern

With cystic fibrosis, the properties of the secretion secreted by the exocrine glands - mucus, sweat, tear fluid - change, which leads to the development of severe pathological processes throughout the body. The secretion becomes thicker and more viscous due to high concentration it contains protein compounds and electrolytes (calcium, sodium, chlorine) and is poorly evacuated from the excretory ducts of the glands. Obstructed outflow and stagnation of secretions in the ducts leads to their expansion and the formation of cysts. Glandular tissue atrophies (dries out) over time and is replaced connective tissue. Against this background, the likelihood of infection and subsequent purulent inflammation of the organs is very high. Most often, the pathological process affects the respiratory and digestive systems.

There are the following forms of cystic fibrosis:

Pulmonary - occurs due to a change in the composition of mucus and its stagnation in the lungs, difficult sputum discharge. Occurs in 15-20% of cases.
Intestinal – caused by insufficient secretion of the gastrointestinal tract. It clearly manifests itself when complementary foods are introduced or the child is transferred to artificial nutrition. Occurs in 5% of cases.
Mixed - characterized by a combination of pulmonary and intestinal symptoms, accounts for 75-80% of cases.
Atypical – characterized by isolated damage to individual exocrine glands.

The division of the disease into forms is very arbitrary, since when predominant defeat lungs or intestinal gastrointestinal tract there are always disturbances from other organ systems.

Pulmonary

The glands of the mucous membrane of the respiratory tract produce a large amount of secretion, which, due to increased viscosity clogs small bronchi and bronchioles. This causes stagnation and chronic inflammation, as a result of which the bronchial glands enlarge and the lumen of the bronchi narrows, resulting in the formation of bronchiectasis (pathological dilation of the bronchi).

Impaired airway patency is often complicated by infection. The most common pathogenic agents are:

Staphylococcus aureus.
Haemophilus influenzae and Pseudomonas aeruginosa.

Infection of the tissues of the lungs and bronchi leads to purulent inflammation and increased obstruction.

A sign of pulmonary cystic fibrosis is deformed fingers (symptom of drumsticks)

Symptoms of the pulmonary form:

general weakness and lethargy;
pale and blue skin;
shortness of breath (even at rest);
cough accompanied by thick sputum (immediately after birth);
pneumonia, fever, convulsions (in infants);
low weight gain with adequate nutrition;
deformation of the chest, fingers (in the form of drumsticks), nails become convex (in children over 1 year old);
sinusitis, tonsillitis, nasal polyps (in teenagers).

Complications of the pulmonary form:

Pulmonary hemorrhages.
Hemoptysis.
Pleurisy (inflammation of the serous membrane of the lungs).
Pneumothorax (accumulation of air in the pleural cavity).
Pleural empyema (inflammation accompanied by the accumulation of pus in the pleural cavity).

Intestinal

Gastrointestinal disorders are caused by secretory insufficiency of many organs of the digestive system. For example, the viscosity of the secretion causes blockage of the pancreatic ducts even at the stage of intrauterine development. The accumulation of enzymes in the gland provokes its self-digestion and degeneration into fibrous tissue already in the first weeks of a child’s life. The digestibility of proteins and fats is predominantly impaired. The presence of undigested proteins and amino acids in the intestines leads to the development of rotting and decomposition processes, resulting in the formation of highly toxic decomposition products (hydrogen sulfide, ammonia, etc.)

Symptoms of the intestinal form:

putrefactive dyspepsia (combined functional disorder of the gastrointestinal tract) and flatulence (accumulation of gases in the intestines), bloating;
frequent bowel movements with a large volume of feces, which can exceed the age norm by 2-8 times. In some cases - fecal incontinence;
constipation with prolapse of the rectum (partial or complete inversion);
meconium ileus. Usually, the passage of the first feces (meconium) in a newborn is observed during the first day after birth, less often - on the second day. In cystic fibrosis, viscous meconium clogs the loops small intestine, as a result of which no discharge occurs;
abdominal pain of various types (cramping, sharp, spasmodic, etc.);
decreased muscle tone, elasticity and firmness of the skin;
dry mouth, difficulty chewing dry food;
polyhypovitaminosis (deficiency of vitamins of different groups);
liver enlargement (due to dysfunction of the duodenum).

Complications:

Neonatal (diagnosed at birth) jaundice accompanied by skin itching, and liver fibrosis.
Liver cirrhosis and portal hypertension (increased pressure in the portal vein, which runs from the stomach to the liver).
Ascites (accumulation of a large volume of fluid in the abdominal cavity), which is caused by portal hypertension.
Encephalopathy (damage and death of nerve cells in the brain) due to the fact that the liver cannot cope with the function of purifying the blood and some of the toxins enter the brain.
Diabetes mellitus (due to impaired production of insulin by the pancreas).
Stomach bleeding.
Pyelonephritis and urolithiasis.
Intestinal obstruction.

Mixed

In the mixed form of cystic fibrosis, symptoms characteristic of both pulmonary and intestinal forms are observed:

prolonged and severe bronchitis and pneumonia from the first week of life (with constant relapses), incessant cough;
severe gastrointestinal upset, bloating and abdominal pain;
copious, frequent, loose, oily stools with a foul odor;
swelling, low weight gain, delayed physical development;
changes in the composition of sweat, the skin tastes salty.

Thanks to x-ray examination lungs and bronchi, you can determine the form of cystic fibrosis

Atypical

Emergence atypical forms Cystic fibrosis is associated with isolated damage to individual exocrine glands (for example, the liver). These forms may not have any clinical manifestations for a long time.

Diagnostics

The disease can be detected in the fetus as early as 8–12 weeks of pregnancy. To do this, you need to do a DNA analysis for the presence of a mutant gene. After the birth of a child, the diagnosis is made on the basis of pulmonary and intestinal symptoms, a study of family history (the presence of cystic fibrosis patients in the family) and laboratory tests.

The main methods of perinatal diagnosis:

Determination of trypsin level in dry blood.
Sweat test. This method is based on determining the content of electrolytes (chlorine and sodium) in sweat. The child undergoes electrophoresis with pilocarpine to stimulate the sweat glands, then the concentration of trace elements in the sweat fluid is measured. Cystic fibrosis is indicated improved results analysis. The sweat test is not performed on children under 7 days old, since during this period it can also be positive for other diseases.
Coprogram - examination of stool for abnormal content of fats, muscle fibers, and fiber.

Additionally, X-rays of the lungs and bronchi, bronchoscopy and bronchography, spirometry (examination of functional state lungs), microbiological analysis of sputum.

Changes in the lungs with cystic fibrosis

Cystic fibrosis is differentiated from the following diseases:

whooping cough;
obstructive bronchitis;
asthma;
viral and bacterial pneumonia;
intestinal dysbiosis;
enteropathy (inflammation of the small intestinal mucosa of various etiologies).

Treatment

Cystic fibrosis is an incurable disease, like all hereditary genetic pathologies. Throughout life, a comprehensive symptomatic therapy, aimed at eliminating respiratory and intestinal clinical manifestations.

Diet

Fish and seafood must be included in the diet of a child with cystic fibrosis

Nutrition for cystic fibrosis is very important. The calorie content of the diet should be 10-20% higher than age norms, and protein products should predominate in it. Complex carbohydrates are limited in moderation, fats may not be excluded provided that the necessary enzymes are taken. It is especially important to follow a diet for the intestinal form of the disease. The diet of a sick child should include:

meat (pork, beef, lamb);
fish (sea varieties);
eggs (yolks);
dairy products, cheeses, cottage cheese;
butter and vegetable oils;
nuts (walnuts, peanuts, pistachios, hazelnuts, cashews, almonds), sesame seeds;
cereals (wheat, oat, buckwheat, barley);
potato;
sweet fruits (bananas, pears, apples, apricots, peaches, persimmons, avocados);
drinks with high content sugar (compotes, fruit drinks).

You also need to drink plenty of fluids every day (at least 2 liters of plain water per day) and enough salt in your food to replenish large sodium losses, especially in the hot season.

Are prohibited raw vegetables containing coarse fiber.

Important! Must be taken fat soluble vitamins A, D, E, F, K, since their absorption is impaired in children with cystic fibrosis.

Drug treatment

Therapy of the intestinal form: to maintain the functioning of the pancreas and intestines, enzymatic preparations such as Pancreatin, Pancitrate, Mexaza, Panzinorm, Creon are used. For liver damage - a combination of Ursosan with Taurine, hepatoprotectors Essentiale-Forte, Enerliv, Gepabene.
Therapy for the pulmonary form: to thin and eliminate mucus from the respiratory tract, mucolytics are prescribed - Bromhexine, Mucaltin, ACC, Fluifort, Mucosolvin. Inhalations with Acetylcysteine, Pulmozyme, and sodium chloride solution are also carried out. It is possible to introduce mucolytics into the bronchi with subsequent suction of secretions.
Upon joining bacterial infection antibiotics of the cephalosporin or fluoroquinolone group are used. With pronounced inflammatory process NSAIDs and corticosteroids may be prescribed.

Children with cystic fibrosis are monitored throughout their lives. If exacerbations and complications develop, treatment is carried out in a hospital.

Drugs prescribed for the disease (gallery)

Acc

Physiotherapy

There is a special complex for removing mucus from the bronchi and lungs. breathing exercises(kinesiotherapy). The patient should perform these exercises regularly. There are also techniques for newborn babies.

Exercises (physical therapy) for the back and spine are very useful, since the effectiveness of cleansing the respiratory system largely depends on correct posture. A specific list of exercises is selected individually by a physiotherapist.

Forecast

The prognosis for this disease is unfavorable. Infant mortality exceeds 60%. Previously, most children died before the age of one year. Over the past 50 years, the life expectancy of people with cystic fibrosis has been increasing. The mortality rate dropped from 80% to 35%.

The prognosis worsens in the presence of complications and concomitant infections. The younger the child is at the time of manifestation clinical symptoms(that is, the release of the disease from asymptomatic form), the worse the prognosis.

In case of severe damage to the liver and lungs, they are sometimes transplanted. Any form of the disease can be complicated by:

arthritis (inflammation of the joints);
periostitis (inflammation of the periosteum);
osteoporosis (brittle bones), etc.

The disease affects mental and physical development child, as well as on future reproductive function.

Infertility is diagnosed in 98% of men with cystic fibrosis. Women with cystic fibrosis are capable of having children, but due to specific physical condition they have an increased incidence of preterm birth and maternal complications.

Cystic fibrosis is a severe hereditary disease that requires adequate therapy throughout a person’s life. The earlier the correct diagnosis is made and supportive treatment started, the better the prognosis.