Symptoms of cystic fibrosis in children, diagnosis and treatment of various forms of the disease. Forms of illness in a child

Cystic fibrosis in children - disease of the glands that secrete secretions - autonomic-recessive, genetic, lethal. Cystic fibrosis affects only members of the white race. The disease is inherited from both parents who are carriers of the gene with a defect.

Cystic fibrosis affects the respiratory system, gastrointestinal tract, liver, salivary, sweat and reproductive glands. The viscous secretion provokes inflammatory processes in the affected organs.

Death is inevitable. But science has found ways to prolong the lives of patients. Today in Russia, more than 32–33% of patients with cystic fibrosis live to be 35–40 years old. At the end of the last century, the age limit for death was 14–15 years. In Great Britain, patients have lived for more than half a century, thanks to proper therapy

and preventive actions. The cause of the disease is the cystic fibrosis gene, which occurs in 5% of the white population of the planet (every twentieth). Parents who are both carriers of mutated genes should not think that their child will necessarily be born with a fatal disease.

The probability of cystic fibrosis in the fetus is 25% in each pregnancy. On the causes and development of the disease in no way not influenced by environmental factors, age criteria and bad habits of parents

: smoking, alcoholism, drug addiction. Stress in pregnant women is also not a cause of cystic fibrosis in children. The disease can be equally likely to be contracted in newborn girls and boys.

Symptoms The initial stage of cystic fibrosis is manifested by a violation of the processes of absorption of water, sodium and chlorine, the secretion of the glands becomes viscous and thick. Metabolism is disrupted, which leads to concomitant diseases

: dysfunction of the liver and kidneys, heart failure,.

A child with cystic fibrosis lags behind his peers in growth. A fifth of sick newborns exhibit obstruction in the gastrointestinal tract and jaundice. In the first year, a sick child often has a dry cough.

  • Based on symptoms, the disease is divided into types:
  • pulmonary form;
  • intestinal form;

mixed form.

Pulmonary form At cystic fibrosis, there is a constant dry cough in children of the first year of life - this happens for the following reasons: secretion in the form of viscous mucus accumulates in the lungs and bronchi, making breathing difficult, which is fraught with pneumonia and purulent inflammation.

Viscous secretion is an ideal breeding ground for the development of bacteria in the lungs and respiratory tract.

Intestinal form Meconium ileus is observed in newborns - due to blockage small intestine meconium

(original feces). Half of newborns with intestinal cystic fibrosis have jaundice. The reason is difficulty in the outflow of bile due to viscosity.

The most common symptoms are the mixed form of cystic fibrosis. Due to disruption of the gastrointestinal tract The child has noticeable lags in physical indicators: height, weight, poor development of fatty tissue.

Viscous enzymes in the gastric juice clog the passages. Food is poorly digested. The child develops foul-smelling, oily stools. Enzymes accumulate in the pancreas and break it down. The gland tissue is replaced by connective tissue (cystic fibrosis).

  • Parents should definitely consult a doctor if the following symptoms are observed:
  • in newborns, the rectum falls out during defecation;
  • the child has salty sweat;

constant dry cough, sputum accumulates in the lungs and bronchi, there are no symptoms of ARVI.

Diagnostics

prevention of cystic fibrosis.

Screening

Screening at 11–13 weeks of pregnancy:

  • Fetal ultrasound;
  • donate blood for analysis and undergo a double test.

Screening at 16–18 weeks of pregnancy:

  • donate blood for analysis and undergo a triple test;
  • get advice from a geneticist.

Screening at the third stage carried out if the risk of having a sick child is 1:300. Expectant mother are referred for additional invasive diagnostics:

  • amniocentesis;
  • chorionic villus or placenta biopsy;
  • cordocentesis.

Treatment

Treatment for cystic fibrosis is lifelong. Due to the fact that the absorption of drugs from the gastrointestinal tract into the blood is difficult, the doctor prescribes drugs in increased dosages.

Children under one year of age must be prescribed "Pancitrat" ​​or "". Capsules are taken with meals. Dissolving in the stomach, they influence the normalization of digestion, due to which children gain weight well and grow in the same way as their healthy peers.

Antibiotics

Antibiotics are prescribed at the first signs of ARVI. Antibacterial treatment is preventive therapy aimed at eliminating infection in the lungs. Before prescribing an antibiotic, it is necessary to have sputum tested. Crops are carried out regularly. Sputum analysis must be done every three months.

Mucolytics Mucolytics are prescribed to thin the mucus in the bronchi and lungs. The most effective treatment is with the drug “Pulmozim”. For children with cystic fibrosis, treatment with conventional mucolytics: Ambrosan, Fluimucil - does not help.

The drugs are prescribed in the form of tablets, syrups or inhalations. Parents often use folk remedies: herbal infusions, massage, compress.

Hepatoprotectors

Hepatoprotectors dilute bile, which has a beneficial effect on liver function. To prevent the development of cholelithiasis and cirrhosis, treatment is prescribed with the drugs "Urosan" and "Ursofalk", which free the ducts from bile clots.

Vitamins

Vitamin therapy is regular and lifelong treatment. With cystic fibrosis, vitamins A, D, E, K are poorly absorbed by the body. A significant portion of microelements is lost in the stool.

A chronically weakened body needs constant replenishment of vitamins, which must be taken with food while feeding the child.

Kinesitherapy

The main prevention for children with cystic fibrosis is proper nutrition, a fatty diet and regular treatment that protects against the occurrence of bacterial infection in the lungs. A child under one year of age uses breast milk or special mixtures that are selected by the pediatrician. A single dose is 150% of the usual volume of milk or formula consumed healthy child

– this is due to poor absorption of food in the gastrointestinal tract. Proper nutrition for cystic fibrosis is a fat content of at least one third in a standard serving size.

In order for a child to eat everything that his peers should eat, it is necessary to regularly take medications such as pancreatic enzymes. To do this, the contents of the capsule are dissolved in milk or juice and given to the child to drink before eating. When parents begin to introduce new foods to daily diet , it is necessary to focus on fatty foods. Children with cystic fibrosis should receive: full-fat yogurt and sour cream, cream. You should definitely add a couple of tablespoons of cream or butter to porridge. These are effective

folk remedies

, like honey and goat fat.

Parents should remember that the child needs plenty of fluids. The norm, unlike healthy children, should be twice the standard volume of liquid. In the summer, sick children need to add additional salt to their food - at least 5 grams per day - this is due to the fact that the child loses a lot of mineral salts through sweat.

If your child develops fatty, foul-smelling stools, abdominal pain, or loses consciousness, you should immediately consult a doctor!

  • A child with cystic fibrosis should have his own room, which should be regularly ventilated. Parents should monitor medication intake. Preventive vaccinations are not canceled. The only restriction before vaccination: a period of exacerbation or a bacterial infection in the lungs. In this case, the vaccination schedule is adjusted with the pediatrician. During the cold season, it is advisable to vaccinate your child against the flu in order to avoid acute respiratory viral infections, fraught with pneumonia and bronchitis.
  • Daily procedures
  • Mucolytic therapy: inhalation, medication, treatment with folk remedies.

– a severe congenital disease manifested by tissue damage and disruption of the secretory activity of the exocrine glands, as well as functional disorders, primarily of the respiratory and digestive systems. The pulmonary form of cystic fibrosis is distinguished separately. In addition to it, there are intestinal, mixed, atypical shape and meconic intestinal obstruction. Pulmonary cystic fibrosis manifests itself in childhood paroxysmal cough with thick sputum, obstructive syndrome, repeated prolonged bronchitis and pneumonia, progressive disorder respiratory function leading to chest deformation and signs of chronic hypoxia. The diagnosis is established according to anamnesis, chest radiography, bronchoscopy and bronchography, spirometry, and molecular genetic testing.

ICD-10

E84 Cystic fibrosis

General information

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

Changes in cystic fibrosis affect the pancreas, liver, sweat, salivary glands, intestines, and bronchopulmonary system. The disease is hereditary, with autosomal recessive inheritance (from both parents who are carriers of the mutant gene). Disturbances in organs with cystic fibrosis occur already in the intrauterine phase of development, and progressively increase with the patient’s age. The earlier cystic fibrosis manifests itself, the more severe the course of the disease, and the more serious its prognosis. Due to chronic course pathological process, patients with cystic fibrosis need permanent treatment and specialist supervision.

Causes and mechanism of development of cystic fibrosis

There are three main factors in the development of cystic fibrosis: damage to the exocrine glands, changes in the connective tissue, and water and electrolyte disturbances. Cystic fibrosis is caused by gene mutation, as a result of which the structure and function of the CFTR protein (cystic fibrosis transmembrane regulator) involved in water-electrolyte metabolism of the epithelium lining the bronchopulmonary system, pancreas, liver, gastrointestinal tract, organs is disrupted reproductive systems s.

Changes in cystic fibrosis physicochemical characteristics secretion of the exocrine glands (mucus, tear fluid, sweat): it becomes thick, with an increased content of electrolytes and protein, and is practically not evacuated from the excretory ducts. The retention of viscous secretions in the ducts causes their expansion and the formation of small cysts, most notably in the bronchopulmonary and digestive systems.

Electrolyte disturbances are associated with high concentrations of calcium, sodium and chlorine in secretions. Stagnation of mucus leads to atrophy (shrinkage) glandular tissue and progressive fibrosis (gradual replacement of gland tissue with connective tissue), early appearance of sclerotic changes in organs. The situation is complicated by the development of purulent inflammation in the event of secondary infection.

Damage to the bronchopulmonary system in cystic fibrosis occurs due to difficulty in the discharge of sputum (viscous mucus, dysfunction of the ciliated epithelium), the development of mucostasis (stagnation of mucus) and chronic inflammation. Impaired patency of small bronchi and bronchioles underlies pathological changes in the respiratory system in cystic fibrosis. Bronchial glands with mucous-purulent contents, increasing in size, protrude and block the lumen of the bronchi. Saccular, cylindrical and “teardrop-shaped” bronchiectasis are formed, emphysematous areas of the lung are formed, and with complete obstruction of the bronchi with sputum - zones of atelectasis, sclerotic changes lung tissue(diffuse pneumosclerosis).

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

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

Clinical forms of cystic fibrosis

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

  • pulmonary (cystic fibrosis);
  • intestinal;
  • mixed (the respiratory organs and digestive tract are affected simultaneously);
  • meconium ileus;
  • atypical forms associated with isolated lesions of individual exocrine glands (cirrhotic, edematous-anemic), as well as erased forms.

The division of cystic fibrosis into forms is arbitrary, since with predominant damage to the respiratory tract, disorders of the digestive organs are also observed, and with the intestinal form, changes in the bronchopulmonary system develop.

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

Pulmonary (respiratory) form of cystic fibrosis

The respiratory form of cystic fibrosis manifests itself in early age and is characterized by pale skin, lethargy, weakness, low weight gain with normal appetite, and frequent acute respiratory viral infections. Children have a constant paroxysmal, whooping cough with thick mucous-purulent sputum, repeated prolonged (always bilateral) pneumonia and bronchitis, with severe obstructive syndrome. Breathing is harsh, dry and moist rales are heard, and with bronchial obstruction - dry wheezing. There is a possibility of developing infection-related bronchial asthma.

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

If pulmonary symptoms combined with extrapulmonary manifestations, then they speak of a mixed form of cystic fibrosis. It is characterized by a severe course, occurs more often than others, combines pulmonary and intestinal symptoms diseases. From the first days of life there are severe repeated pneumonia and prolonged bronchitis, persistent cough, indigestion.

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

  • Stage I characterized by unstable functional changes: dry cough without sputum, slight or moderate shortness of breath during exercise.
  • Stage II is associated with the development of chronic bronchitis and is manifested by a cough with sputum production, moderate shortness of breath, aggravated by exertion, deformation of the phalanges of the fingers, moist rales heard against the background of hard breathing.
  • Stage III is associated with the progression of lesions of the bronchopulmonary system and the development of complications (limited pneumosclerosis and diffuse pneumofibrosis, cysts, bronchiectasis, severe respiratory and heart failure of the right ventricular type (“cor pulmonale”).
  • IV stage characterized by severe heart disease pulmonary insufficiency leading to death.

Complications of cystic fibrosis

Diagnosis of cystic fibrosis

A timely diagnosis of cystic fibrosis is very important in terms of prognosis for the life of a sick child. The pulmonary form of cystic fibrosis is differentiated from obstructive bronchitis, whooping cough, chronic pneumonia of other origins, bronchial asthma; intestinal form - with impaired intestinal absorption that occurs with celiac disease, enteropathy, intestinal dysbiosis, disaccharidase deficiency.

The diagnosis of cystic fibrosis involves:

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

Treatment of cystic fibrosis

Since cystic fibrosis, as a hereditary disease, cannot be avoided, timely diagnosis and compensatory therapy are of paramount importance. The sooner adequate treatment for cystic fibrosis is started, the greater the chance of survival for a sick child.

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

Treatment of cystic fibrosis is mostly symptomatic, aimed at restoring the functions of the respiratory and gastrointestinal tract, and is carried out throughout the patient’s life. If the intestinal form of cystic fibrosis predominates, a diet high in proteins (meat, fish, cottage cheese, eggs) is prescribed, with a limitation of carbohydrates and fats (only easily digestible ones). Coarse fiber is excluded; in case of lactase deficiency, milk is excluded. It is always necessary to add salt to food, consume increased amounts of liquid (especially in the hot season), and take vitamins.

Replacement therapy for the intestinal form of cystic fibrosis includes taking medications containing digestive enzymes: pancreatin, etc. (the dosage depends on the severity of the lesion and is prescribed individually). The effectiveness of treatment is judged by the normalization of stool, the disappearance of pain, the absence of neutral fat in the stool, and the normalization of weight. To reduce the viscosity of digestive secretions and improve their outflow, acetylcysteine ​​is prescribed.

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

In the presence of acute manifestations pneumonia, bronchitis are carried out antibacterial therapy. Metabolic drugs that improve myocardial nutrition are also used: cocarboxylase, potassium orotate, glucocorticoids, cardiac glycosides are used.

Patients with cystic fibrosis are subject to dispensary observation by a pulmonologist and a local therapist. Relatives or parents of the child are trained in vibration massage techniques and the rules of caring for the patient. The issue of preventive vaccinations for children suffering from cystic fibrosis is decided individually.

Children with light forms cystic fibrosis get sanatorium treatment. Stay of children with cystic fibrosis in preschool institutions better to exclude. The ability to attend school depends on the child’s condition, but he is given an additional day of rest during the school week, time for treatment and examination, and exemption from examination tests.

Forecast and prevention of cystic fibrosis

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

Of great importance are the issues of family planning, medical and genetic counseling of couples who have cystic fibrosis, and medical examination of patients with this serious illness.

Various hereditary diseases are often recorded in newborns and infants. The course of some of them is very severe and dangerous in terms of the development of long-term consequences. Such pathologies include cystic fibrosis.




What it is?

Congenital pathology in which congenital malfunctions occur in the functioning of different groups of glands internal secretion, called cystic fibrosis. If translated from Latin language, then the name of the disease will be literally translated as "thick mucus". This is a very succinct description of the essence of this congenital pathology. All the glands that are responsible for the formation of secretions (mucus) in the body do not work effectively enough.

This feature is due to the presence of a persistent anatomical defect in the body, which arose even at the stage of the birth of a small life in utero. The disease has a clear hereditary tendency. In families where children are born with cystic fibrosis, heredity manifests itself quite clearly.


The disease develops quite severely. Exacerbations of the disease require mandatory treatment in a hospital with the introduction of various medicines. In some cases, the first adverse signs of the disease appear in infants up to one year old. They leave a significant imprint on the baby’s psyche, noticeably disrupting their overall well-being.

Disturbances in this disease are formed at the genetic level. These changes are passed on from generation to generation. Most often, these disorders are associated with the presence of special mutations that have occurred in the genetic apparatus. As a result, the work of all endocrine glands is disrupted. They begin to produce a rather viscous secretion, which stagnates in the lumen of the organs and causes numerous disruptions in their functioning.

It is important to note that thick mucus is an excellent breeding ground for the development of various microorganisms, including pathogens. This feature provokes an increased susceptibility to bacterial or viral infections in sick babies. Decreased immunity only contributes to the rapid spread of pathogenic microorganisms throughout the body during short period

time.

Scientists note that if both parents have the genes for this disease, then the pathology can develop in the baby with a 25% probability. However, a child may not always get sick. He may be a carrier and not know at all that he carries such a damaged gene. In the future, he can pass it on to his children and grandchildren. Sometimes the disease develops after one generation. The presence of an atypical gene can only be determined by diagnostic tests

. It is impossible to detect cystic fibrosis in a carrier by external signs.

There is evidence that there are more than ten million people in the world who have cystic fibrosis genes. They do not even suspect the presence of this disease.

Genetic damage leads to the development of the disease. They contribute to disruption of the outflow of secretions from the organs that produce it. The severity of the disease may vary. In most children, the disease is quite severe. Without treatment, it can lead to life-threatening conditions and cause life-threatening consequences.

In some cases, the first adverse symptoms of the disease can be noticed already in infants. They usually appear in the first few months after the baby is born.

The long course of the disease leads to a pronounced lag of the baby in physical and mental development from the age norm.


Interestingly, in Europe and America there are much higher officially registered cases of the disease. This can be explained by the availability of better diagnostic tests and devices that make it possible to detect the disease at the most early signs. In Russia for several recent years The diagnosis of this pathology has become much better. However, in some regions of the country, doctors still detect the disease quite late.

Clinical forms

Taking into account the predominant localization of changes, doctors identify several variants of the disease. They can occur in different ways in children and are accompanied by the appearance of specific clinical symptoms. Their severity depends on the initial condition of the baby and the presence of concomitant chronic diseases internal organs.

There are several clinical variants of the disease:

  • Pulmonary form. Adverse symptoms of the disease begin to appear in the first months after the birth of the baby. This pathology is accompanied by disruption of the functioning of the respiratory, digestive and reproductive systems. The pulmonary variant of the disease occurs in approximately every fifth child suffering from cystic fibrosis. To diagnose the disease, a whole complex is used diagnostic procedures, including chest x-rays and laboratory tests.


  • Intestinal form. It is extremely rare in pediatric practice. According to statistics, it is registered in no more than 5% of all cases. This form of the disease is accompanied by the appearance of characteristic symptoms associated with digestive disorders in children. It is usually detected in infants when additional complementary foods are introduced into their diet.
  • Mixed form. The most common option in pediatric practice. Accompanied by combined damage to almost all endocrine glands. Provokes the appearance of numerous unfavorable symptoms of the disease. Treatment of exacerbations is carried out in a hospital setting using specialized expensive drugs.



Some experts also identify several forms of genetic disease. These include the following options:

  • atypical;
  • erased;
  • hepatic;
  • electrolyte;
  • with meconium obstruction.


In 80% of cases, a mixed form of the disease is registered. It is most severe at all ages. To eliminate unfavorable symptoms of the disease, it is very important timely diagnosis and drawing up the correct treatment tactics. Treatment of exacerbations in this case is a hospital task. All kids who have genetic predisposition to the development of this disease, must be observed by a doctor. Different clinical forms diseases cause numerous adverse symptoms in a child.

Most often, the first signs can be seen in the baby already in the first months after birth. After their detection, parents should immediately show the child to the doctor. The doctor will be able to establish the correct diagnosis and suggest an appropriate treatment regimen.

Symptoms

Clinical manifestations can be truly different. Many of them appear at a very early age. However, some symptoms develop gradually. The course of the disease usually progresses. In some cases, the disease is aggravated by complications.

Among the most characteristic symptoms of the disease are the following:

  • Development of meconium ileus. It occurs in approximately 20-25% of cases. In this case, a blockage occurs small intestine meconium. U healthy child After birth, meconium (the first stool after birth) passes on its own. This does not happen in babies with cystic fibrosis.


  • The appearance of a “salty” taste of the skin. Usually this symptom is detected by parents of newborn babies when they kiss their child. Disturbed functioning of the glands leads to changes in the chemical composition of body secretions. The amount of sodium chloride ions in them increases, which contributes to the appearance of a specific taste.
  • Retarded physical development. It often develops in children with a long-term illness. Typically, sick children do not gain weight well. It is important to note that their appetite is completely preserved or slightly reduced. Persistent deviations from age-related norms often accompany cystic fibrosis.



  • Appearance of jaundice. Typically, this symptom is characteristic of many newborn babies. However, it goes away on its own and does not require specialized treatment. In babies with cystic fibrosis, jaundice can be persistent. To eliminate this condition, complex treatment is required.
  • Excessive stickiness and viscosity of all biological secretions produced by secretory glands. The presence of such mucus in the lungs provokes the appearance of persistent productive cough. When a secondary bacterial infection occurs, the baby may develop bacterial bronchitis or pneumonia. Treatment of such conditions is usually long-term with prescription large doses antibiotics.



  • Nasal breathing disorder. Sticky secretion promotes child development chronic rhinitis- runny nose. Most often, this symptom manifests itself in children with a mixed form of cystic fibrosis. In this case, the use of conventional vasoconstrictor drops for the nose does not bring a pronounced positive effect.
  • Impaired digestion. Typically manifests as pain in abdominal cavity and stool disorders. Various “putrefactive” microbes easily settle in the intestines of babies suffering from cystic fibrosis. Their rapid development leads to the development of persistent pathological disorders. Very often this manifests itself as constipation or diarrhea.



  • Pain after eating fatty and fried foods in the left hypochondrium. This symptom occurs due to the development chronic pancreatitis, which occurs in intestinal and mixed forms of cystic fibrosis.
  • Shortness of breath and development of breathing failures. Long and severe course disease may cause the child to develop symptoms respiratory failure. This sign is extremely unfavorable. Normalization often requires hospitalization of the baby in a hospital.



  • Changing your child's behavior. This serious disease certainly causes some disturbances in the mental development of the baby. Typically, children suffering from cystic fibrosis study worse and do not master the course well. school curriculum. An exacerbation of the disease causes a noticeable deterioration in the child’s well-being. He becomes nervous, whiny, and refuses any contact.
  • Some pallor of the skin. Attentive parents will notice that the skin of a baby suffering from cystic fibrosis becomes pale. Some babies develop pronounced signs of excessive dryness of the skin. They are easily exposed to any traumatic impact and can often fester.



  • Growth of nasal polyps. Often found as long-term consequence diseases. Registered mainly in adolescence. Rapidly growing polyps in the nasal passages can significantly complicate nasal breathing, which also contributes to the deterioration of the child’s well-being.
  • Excessive dry mouth. Disturbances in the functioning of the glands lead to the fact that the process of saliva formation is significantly disrupted. This contributes to the baby’s difficulty swallowing food, especially solid food. This condition causes a decrease in appetite and body weight.



Diagnostics

Determine availability positive signs The disease can occur as early as 8-12 weeks of intrauterine development of the baby. The disease can also be suspected through screening.

To establish a diagnosis, a special DNA examination is carried out to determine whether the baby has a mutant cystic fibrosis gene.

In difficult diagnostic cases re-analysis is required. This is necessary to establish accurate diagnosis. In addition to laboratory tests, doctors examine family history. They conduct a genetic examination of the parents of a sick child, and also determine the likelihood of them having sick babies in the future.


For prenatal diagnostics Several tests are used:

  • Quantitative determination of trypsin levels in dry blood. Used as one of the diagnostic tests for cystic fibrosis.
  • Carrying out a sweat test. To do this, determine the amount of sodium and chlorine ions in sweat. For this purpose, the baby is first subjected to electrophoresis with the administration of pilocarpine. This Chemical substance capable of activating work sweat glands. The test can be performed on all babies older than one week from birth.
  • Carrying out a coprogram. Allows you to determine the availability functional disorders digestion. A large number of undigested food components with a significant content of fat and muscle fibers indicates possible availability the child has cystic fibrosis. The laboratory test is not specific and has an auxiliary value.
  • Carrying out comprehensive survey chest organs. These include: radiography, spirometry and physical auscultation. In the presence of wet cough A bacteriological examination of sputum is also carried out. This diagnostic complex helps to exclude diseases of the bronchopulmonary system similar to cystic fibrosis.

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

Medical history

Cystic fibrosis in children develops due to a violation of the structure of the 7th chromosome (its arm). At the same time, the mucus in the body becomes more viscous. It is known that almost all internal organs are covered with this type of secretion. Thanks to this, their surface is moistened, and when separated, the mucus further cleanses it. But if a failure occurs, the viscous secretion stagnates and accumulates. In such an environment, pathogenic microorganisms also multiply, which leads to constant infection. Subsequently, the organs of the digestive system are affected, and the body suffers from insufficient oxygen supply. Cystic fibrosis in a child was first described in 1938 by D. Andersen. Until that time a large number of children simply died from pneumonia and other diseases that were the result of cystic fibrosis. More information about this disease appeared at the end of the twentieth century. Almost every twentieth person on our planet is a carrier of the mutating cystic fibrosis gene. This defect has nothing to do with the bad habits of parents during conception or with taking medications. Also, its presence is not affected by unfavorable environmental conditions. Both girls and boys get sick equally.

Forms of cystic fibrosis

This disease can have three main forms.

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

This form of the disease is often called respiratory. As a rule, signs of the disease appear immediately in newborns. Cystic fibrosis of the lungs in children has the following symptoms: cough, general lethargy, pale skin. Over time, the cough intensifies and is accompanied by the release of thick sputum. Gas exchange processes are disrupted. The tips of your fingers may become thicker. Often children with cystic fibrosis also suffer from pneumonia, which is quite severe. The tissues of the respiratory organs are affected by purulent inflammatory processes. Pneumonia turns into chronic condition. There may be an overgrowth of connective tissue in the lungs. Over time, cases of the appearance of “pulmonary heart” are common.

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

Stages of pulmonary cystic fibrosis

There are several stages of this disease.

  1. The first stage is characterized by the appearance of a cough, usually dry and without phlegm. In some cases, shortness of breath may also occur. The peculiarity of this stage is that it can even last several years (up to 10).
  2. The second stage is the appearance of bronchitis in a chronic form, changes in the phalanges of the fingers. Discharge appears when coughing. This degree of the disease also lasts quite a long time - up to 15 years.
  3. At the third stage, complications develop. The lung tissues become denser and cysts appear. Against this background, the heart also suffers. The duration of this period of illness is 3-5 years.
  4. The fourth stage (several months) is characterized by extremely severe damage to the respiratory organs and heart. The outcome is usually fatal.

Signs of intestinal cystic fibrosis

This form of the disease is characterized by a malfunction of the digestive system. Intestinal cystic fibrosis in a child manifests itself especially clearly during the period of introducing complementary foods. In this case, poor absorption of fats and proteins is observed (carbohydrates are absorbed somewhat better). Due to the development of putrefaction processes, toxic compounds are formed in the intestines, and the abdomen swells. The number of bowel movements increases significantly. If a diagnosis of cystic fibrosis (intestinal form) is made, children may also experience it. Patients often complain of dry mouth. Difficulty in eating dry food. With further progression of the disease, body weight decreases.

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

Mixed form of the disease

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

Meconium ileus

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

Diagnosis of the disease

Diagnosis of cystic fibrosis in children includes examination for the presence of hereditary and congenital pathologies. Blood, urine and sputum samples are also analyzed. A coprogram is also carried out. It allows you to determine the presence of fatty inclusions in the child’s stool. The respiratory organs are also examined (x-ray, bronchography, bronchoscopy). Spirometry is also necessary, as it allows you to assess the functional state of the lungs. If cystic fibrosis is suspected (symptoms may not appear in children), genetic research. They help determine the presence of mutations in the gene that is responsible for the secretory activity of the body. Newborns undergo neonatal screening (the concentration of trypsin in a dried blood spot is examined). The sweat test is also quite informative. If sodium and chlorine ions are detected in sweat in increased quantities, then high probability we can talk about the presence of this disease. If a woman in whose family there were people diagnosed with cystic fibrosis is expecting a child, then doctors recommend testing at approximately 18-20 weeks.

Cystic fibrosis therapy

It is worth noting that it is impossible to completely get rid of this disease. However, therapy can significantly improve both the quality of life and its duration. Previously, many patients with a similar diagnosis died before the age of 20 years. However, now with the right and timely treatment you can live much longer. Intestinal form requires special diet. Food should be rich in proteins (fish, eggs). Additionally, a complex of vitamin preparations is prescribed. It is also necessary to take enzymes (Creon, Pancitrate, Festal, etc.). It is worth noting that such drugs must be taken throughout your life. The fact that the treatment is producing results will be indicated by normalization of stool, lack of weight loss and even weight gain. Pain in the abdominal area disappears, and fat inclusions are not found in the stool.

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

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

The patient menu deserves special attention. It should be rich in fats (cream, butter, meat), since the absorption useful substances broken. Drinking plenty is also necessary. It is worth remembering that taking enzyme preparations is required every day. In addition to the main treatment, folk therapy can also be used. Herbs such as marshmallow and coltsfoot facilitate the discharge of sputum. Good influence on digestive system render dandelion, elecampane. Use and essential oils for inhalations (lavender, basil, hyssop). In addition, restorative products, such as honey, are also useful.

Forecasts

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

Psychological tips for parents

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

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

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

They are considered one of the most common congenital diseases. Frequency: 1:2000 live births. An autosomal recessive defect in one of the membrane chloride channel proteins leads to dysfunction of exogenous glands with increased viscosity of mucous gland secretions.

Causes of cystic fibrosis in a child

The cause of liver damage in cystic fibrosis is not completely clear. It is believed that the ductal secretion of bile is disrupted, resulting in the formation of concentrated viscous bile, which clogs the ducts and causes inflammation. Damage to the liver and bile ducts in cystic fibrosis can occur in different ways. 2-20% of newborns develop cholestasis, which can persist for several months.

In cystic fibrosis, biliary tract pathology is often observed: hyperplastic cholecystosis, cholelithiasis, strictures and obstruction of the common bile duct caused by severe fibrosis of the pancreas, and bile duct lesions that are clinically indistinguishable from primary sclerosing cholangitis.

A child inherits this disease from parents who are carriers of the cystic fibrosis gene. Although the disease most often affects the sweat glands and glandular cells of the lungs and pancreas, the sinuses, liver, intestines and genitals can also be affected.

Although significant progress has been made in the treatment of this disease and its symptoms, there is still no cure for the disease. However, thanks to scientific progress, children with cystic fibrosis now live longer.

For a child to develop cystic fibrosis, both parents must be carriers of the gene. causing disease. In the United States, cystic fibrosis is most common among people of so-called “Caucasian ethnicity,” of whom one in every 20 people is a carrier of the disease, and one in every two to three thousand Caucasian infants has cystic fibrosis. The disease is much less common among African Americans (one in 17,000 births) and Hispanics (one in 11,500 births), and even less common among Asians. Approximately 60,000 children and adults worldwide are diagnosed with cystic fibrosis; approximately half of them (30,000) live in North America.

In 1989, researchers identified the gene that causes cystic fibrosis. Married couples who are planning to have a child can take a genetic test and undergo specialist counseling to make sure that they do not carry the cystic fibrosis gene.

Epidemiology of cystic fibrosis in children

Cystic fibrosis is one of the most common severe inherited diseases in whites; characterized by early mortality. Clinically significant liver damage occurs in 5-10% of patients with cystic fibrosis. However, thanks to progress in the treatment of the disease, the number of patients surviving to adulthood is steadily increasing, as a result of which the proportion of patients with liver damage is also increasing. The incidence of liver damage in cystic fibrosis increases with age, reaching a maximum in adolescents. After 20 years, liver damage rarely develops. In boys, the liver is affected three times more often than in girls.

Signs and symptoms of cystic fibrosis in a child

  • pancreas:
    • meconium ileus (intestinal obstruction due to blockage by meconium) is the most common first symptom;
    • steatorrhea (fatty stool);
    • exocrine pancreatic insufficiency leads to dystrophy and deficiency of fat-soluble vitamins;
    • diabetes as a long-term consequence;
  • lungs and respiratory tract:
    • chronic sinusitis;
    • frequent, severe respiratory tract infections;
    • chronic obstructive bronchitis, the formation of bronchiectasis;
    • recurrent pneumonia;
    • whooping cough due to irritation of the respiratory tract;
    • copious thick sputum, green-yellow in case of infections;
  • IN advanced stages diseases:
    • shortness of breath on exertion and at rest;
    • increased chest circumference, barrel-shaped chest;
    • nails like “watch glasses”, fingers like “drumsticks” due to chronic hypoxia;
    • pneumothorax, right ventricular strain;
  • Exacerbation:
    • increased frequency and worsening cough;
    • shortness of breath, crepitus, wheezing;
    • fever;
    • increased amount of sputum;
    • decreased exercise tolerance.

Most cases of cystic fibrosis are diagnosed in the first two years of life; In many states, newborn screening includes mandatory testing for cystic fibrosis (in some states, cystic fibrosis is detected before the baby is born through genetic testing or due to an abnormality that is detected during ultrasound examination on late stages pregnancy). Your pediatrician may suspect that your child has cystic fibrosis if the baby is not gaining weight well - most often this is the factor that accompanies the disease. Other signs and symptoms vary depending on the extent of damage to internal organs such as the lungs.

In more than half of cases, cystic fibrosis is diagnosed due to frequent infections lungs. These infections tend to re-emergence, because the mucus in the airways is thicker than normal and more difficult to cough up. A child with cystic fibrosis tends to have a persistent cough that gets worse when colds. Since lung secretions remain in the respiratory tract longer than usual, they are more likely to become infected than others, as a result of which the risk of pneumonia or bronchitis increases. Over time, these lung infections cause lung damage and are the leading cause of death in cystic fibrosis.

Most children with cystic fibrosis have digestive enzyme deficiencies, so they cannot digest proteins and fats properly. As a result, the stool in such children is plentiful, bulky and has a strong stench. Loose stool may cause the body's inability to digest formula or food - this is one of the reasons why a child does not gain weight.

To confirm the diagnosis, your pediatrician will give your child a sodium chloride sweat test to measure the amount of salt the child loses through sweating. In children with cystic fibrosis, the salt content in the sweat fluid is much higher than in healthy children. To make a correct diagnosis, you may need to be tested two or more times because the results are not always clearly positive or negative. If your child is diagnosed with cystic fibrosis, your pediatrician will help you get any additional medical care you need.

Gastrointestinal manifestations

Intestinal obstruction due to blockage by meconium: insufficient excretion of meconium, bloating, vomiting, intestinal perforation (sometimes already in utero), peritonitis.

Digestive disorders due to pancreatic insufficiency:

  • V infancy- steatorrhea with bad odor, large belly;
  • growth retardation, dystrophy.

Diabetes mellitus as a late consequence of the destruction of pancreatic tissue.

Equivalent to intestinal obstruction due to meconium impaction in older children: chronic or acute disorders passage of feces.

Prolapse (prolapse) of the rectum.

Liver involvement: cholangitis, gallstones, biliary cirrhosis.

Diagnosis of cystic fibrosis in children

  • Sweat test (proof high content chlorides in sweat; the norm is up to 60 mmol/l, with cystic fibrosis in most cases it is more than 90 mmol/l).
  • Determination of pancreatic elastase activity in stool (three stool samples are examined).
  • Newborn screening: immunoreactive trypsin.
  • Molecular genetic blood test (the most common mutation is AF 508).
  • Chest X-ray.
  • Ultrasound examination of the abdominal cavity: pancreatic fibrosis, liver fibrosis, gallstones.
  • Physical development (percentile tables in dynamics).
  • Pulmonary function test.
  • Sputum: detection of the pathogen (first - banal microflora of the respiratory tract, later - Staphylococcus aureus and Pseudomonas aeruginosa).

Treatment of cystic fibrosis in children

A variety of treatments are needed throughout life. Consider the patient's right to shared decision. Outpatient treatment whenever possible, minimal inpatient treatment. Each patient requires individual treatment tactics. Main goal: maintaining normal function lungs and normal physical development(body weight).

Antibiotic treatment: long-term (permanent), periodic, inhalation.

Inhalation treatment: isotonic sodium chloride solution, β-adrenomimetics, antibiotics (aminoglycosides), alpha-DNase (dornase alpha - pulmozyme), glucocorticoids. Physiotherapeutic procedures to mobilize secretions. Long-term oxygen therapy when blood oxygen saturation is below 90%.

Mucolytics orally (acetylcysteine ​​- fluimucil).

The most important aspect of a child's health with cystic fibrosis is treating lung infections. The main goal is to help clear the child's lungs of thick secretions, and various technologies can be used to help him cough up phlegm more easily. Lung infections themselves are treated with antibiotics. Stages when lung infections get worse are called exacerbations: the cough becomes stronger, the large quantity sputum and may be required intravenous administration antibiotics.

To treat insufficient digestive enzymes in cystic fibrosis, the child is prescribed capsules containing enzymes with each meal. The amount of enzymes is calculated based on the level of fat in the diet and the child’s weight. As soon as the child starts taking required amount enzymes, his stool will become normal and he will gain weight. He will also need to take additional vitamins.

Ursodeoxycholic acid is used in the treatment of liver and biliary tract lesions in patients with cystic fibrosis. Particular attention should be paid to the function of external respiration, possible infectious complications, dosage of medications in case of malabsorption, as well as constant monitoring of blood glucose levels (given the high incidence of diabetes mellitus against the background of cystic fibrosis).

Liver transplantation for cystic fibrosis is indicated for both children and adults in case of development liver failure. Survival rate is about 75%. In case of severe damage to the lungs and liver, a combined transplantation (lungs and liver or heart, lungs and liver) is possible.

Care

  • Strict adherence to hygiene rules.
  • Inhalations, breathing exercises and drainage position, guide the actions of the patient and parents.
  • Autogenous drainage: the patient learns to collect and cough up sputum.
  • Breathing against controlled external resistance (PEP device, flutter valve).
  • Relaxation exercises.
  • Eat a nutritious, high-calorie diet rich in vitamins, such as high-calorie ready-made liquid nutrition.
  • Probing, for example, with acute infection; with very low body weight - long-term feeding through an enteric tube.
  • Body weight control.
  • Assess and record stool characteristics.

Emotional burden in children with cystic fibrosis

Since cystic fibrosis is hereditary disease, many parents feel guilty about their child’s health. However, cystic fibrosis is a genetic disease that is no one's fault, so there is no reason to blame anyone else for it. Instead, you should focus all your energy on treating your child.

It is very important to raise a child as if he were not sick. There is no reason to limit his educational and career goals. Most children with cystic fibrosis are able to grow up and live full life. Your child needs love and discipline; it is important to help him get used to the restrictions to which his disease obliges him, but over time the child should have a desire to break them.

Balancing the physical and emotional demands of having a disease is difficult for both the person and their family, so it is important to get all the help available. Ask your pediatrician to help you connect closely with your local cystic fibrosis center and support groups for families with cystic fibrosis. Organizations dedicated to the disease can also provide assistance.