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Cystic fibrosis, what is this disease? Causes, symptoms in children, treatment

Cystic fibrosis in a newborn was first described by Landsteiner in 1905. Detailed characteristics of the clinical status of children with pancreatic lesions and meconium obstruction (meconial ileus) were presented.

The name "cystic fibrosis" was given only in 1944 by Farber. Since then, it has taken root in the international classification of diseases and is used up to the present time.

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

The greatest duration of life was achieved by Danish doctors. In this country it is 40 years or more. In Russia, the average life expectancy is 25 years.

Content

Cystic fibrosis - what is this disease?

Cystic fibrosis - what is this disease?

Cystic fibrosis is a hereditary disease caused by a mutation that occurs exclusively in one gene. Pathology is transmitted by an autosomal recessive mechanism, i.e. Not every carrier of the pathological gene shows up.

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

From the clinical point of view, it is customary to allocate carriers and sick people. The main manifestation of the disease is the defeat of the glands of external secretion and the violation of respiratory functions.

Cystic fibrosis is characterized by polyorganism (multiple lesions), the pathological process can involve both glands forming mucus, and non-larvae. However, the latter do not play a significant prognostic role. Their involvement is characterized by an increased liberation of chloride and sodium ions.

The disease is initially characterized by a severe course. Effective treatment methods do not exist at the moment, which causes a poor prognosis for life.

However, early detection of sick children, conducted in the maternity hospital from the first day of life, helps to start symptomatic and pathogenetic therapy in time. . This significantly improves the quality and life expectancy .

Causes and mechanisms of cystic fibrosis

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

The gene is responsible for the formation of a protein located on the membrane of epithelial cells. The main function of this protein is to provide the transmembrane transport of chloride ions, as well as the regulation of other ionic fluxes.

The mechanism of development of cystic fibrosis is reduced to consecutively replacing each other links:

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

This leads to various functional disorders of the organs.

When the glands of the respiratory system are affected

When the glands of the respiratory system are affected , a complete blockage of the lumen of the small bronchioles is observed. These changes create a background for the development of chronic inflammation in the respiratory system, leading to the destruction of connective tissue structures that create an elastic framework of bronchi.

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

The end result of cystic fibrosis of this form is the development of cardiac and pulmonary insufficiency, on the basis of which the prognosis for life depends.

The defeat of the pancreas develops during the intrauterine period. With this form, the formation of pancreatic enzymes occurs in the normal regime, but they can not enter the duodenum. This activates the autolysis (self-digestion) of the pancreas with the formation of cysts and proliferation of connective tissue.

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

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

Forms of the disease

Clinical forms of cystic fibrosis cause some difficulties in diagnosis.

The most common are 3 main ones:

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

Symptoms of cystic fibrosis in adults can be expressed slightly. Therefore, the erased form of the disease, which proceeds under the "masks" of various pathologies, is isolated.

Symptoms of cystic fibrosis in children

Symptoms of cystic fibrosis in children Intestinal form first debuts in childhood, usually after the transfer of the child for artificial feeding. After the termination of receipt of a parent's milk there is a shortage of children's pancreatic enzymes.

This leads to a number of clinical symptoms:

  • bloating due to activation of putrefactive processes;
  • frequently recurring acts of defecation. In a light chair there is a large amount of fat, which gives it a fetid odor (this symptom is called steatorrhea);
  • prolapse of the rectum after the onset of planting the baby on the pot;
  • dry mouth because of increased saliva viscosity;
  • difficulties with chewing dry food (for the same reason) and the need for constant drinking with food;
  • early development of hypotrophy (growth retardation) and hypovitaminosis due to impaired absorption processes in the intestine.

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

  • obstructive (violation of airway patency);
  • secondary infection;
  • bronchoectatic (local expansion of the bronchi);
  • Emphysematous (increased airiness of the lungs);
  • pneumosclerotic (proliferation of connective tissue in the lungs);
  • cardiopulmonary insufficiency.

As a rule, others notice the abnormal state of the child. Their attention is drawn to such signs as:

  1. pallor of the skin, which has an earthy tinge;
  2. cyanosis of fingertips and nose;
  3. Shortness of breath, even in rest;
  4. barrel chest, associated with emphysematous enlargement of the lungs;
  5. the terminal phalanges of the fingers acquire the appearance of "drumsticks" against the background of chronic hypoxia;
  6. poor appetite and pronounced thinness.

The sweat of patients with cystic fibrosis from the very birth contains a large concentration of chlorine and sodium. These figures are increased 5 or more times.

The increased ambient temperature provokes an even greater loss of salt. Developing electrolyte and metabolic disorders (blood alkalization) cause frequent development of heat stroke.

Symptoms and manifestations in adults

Erased forms of the disease are usually detected in adults with an accidental examination. They are associated with special variants of mutations in the pathological gene, which lead to a minor lesion of epithelial cells.

The disease proceeds under the "mask" of other pathological processes, in connection with which a thorough examination begins:

  • inflammation of the paranasal sinuses;
  • recurrent bronchitis;
  • cirrhosis of the liver;
  • male infertility - associated with obstruction of the spermatic cord or its atrophy, as a result spermatozoa can not enter into sperm;
  • female infertility - associated with increased viscosity of the cervical secret, which disrupts the transport of spermatozoa into the uterus, keeping them in the vagina.

Therefore, for all patients suffering from infertility, the cause of which can not be identified by standard survey methods, it is necessary to refer to genetics. Analysis of the genetic material and additional biochemical analyzes allow us to identify the erased form of cystic fibrosis.

Symptoms and course of cystic fibrosis in infants

Symptoms of cystic fibrosis in infants Symptoms of cystic fibrosis in children of the first month of life can be manifested by prolonged neonatal jaundice. Normally jaundice of newborns must pass a month after birth, but in cystic fibrosis it persists for several months.

Its development is associated with the thickening of bile. This condition is accompanied by activation of fibro-formation in the liver. With a frequency of 5 to 10% in these children develops biliary cirrhosis, which is extremely unfavorable and requires liver transplantation.

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

Usually the first clinical signs of cystic fibrosis appear immediately after birth, progressing steadily during the first year of life. They are invested in the syndrome of intestinal obstruction. In patients with children, there is no physiological chair.

By the 2nd day there is a child's anxiety, bloating, frequent regurgitation and vomiting, in which bile is present. Within 2 days the condition progressively worsens:

  1. The skin becomes dry and pale.
  2. Worry goes into lethargy and adynamy.
  3. Increases dehydration and intoxication.

Diagnosis and analysis

Laboratory diagnosis of cystic fibrosis should be carried out in the presence of characteristic clinico-anamnestic signs.

These include:

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

Laboratory methods for diagnosis of cystic fibrosis are:

DNA testing 1) Test for immunoreactive trypsin , carried out only in children of the first month of life. Diagnostic criterion is the excess of normative indicators in 5-10 times and more.

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

2) The "sweat" test is the most common. It is based on the determination of the concentration of sodium and chlorine in the sweat, which for cystic fibrosis is higher than the norm.

3) DNA testing . The material can be any cell of the human body, so the method can be used even in the intrauterine period.

Prenatal DNA diagnosis is recommended at the time of pregnancy 9-10 weeks.

The material for the study is blood obtained from the umbilical cord (cordocentesis). This analysis is recommended to make a geneticist to couples from the risk group.

Instrumental studies conducted with suspicion of cystic fibrosis are aimed at revealing the indirect signs of this disease.

Therefore, the following methods are recommended:

  • radiography of the lungs;
  • bronchography;
  • spirography;
  • ultrasound scanning of the abdominal cavity.

Treatment of cystic fibrosis

Treatment of cystic fibrosis is complex with the use of pharmacological and physiotherapy methods, a simultaneous change in lifestyle.

Treatment of cystic fibrosis

Its main objectives are:

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

The obligatory therapeutic directions for cystic fibrosis are:

  • the use of enzyme pancreatic drugs that eliminate intestinal absorption;
  • mucolytics for thinning viscous sputum and effective cleansing of the bronchial tree;
  • antibacterial therapy (preventive and curative) with a predominant inhalation route through the introduction of drugs through the nebulizer;
  • taking anti-inflammatory drugs;
  • reception of vitamins;
  • dietary food;
  • Healing Fitness.

занятие определенными видами спорта: Painful cystic fibrosis for children and adults, for therapeutic purposes, recommended the occupation of certain sports:

  • badminton;
  • tennis;
  • run;
  • horse riding;
  • golf;
  • volleyball;
  • bicycle riding;
  • yoga;
  • swimming;
  • skiing.

видами спорта являются: Forbidden sports are:

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

Dietary nutrition is based on certain principles that help to normalize digestion and improve weight gain by the child:

  1. a large number of proteins in the diet;
  2. absence of fats;
  3. the number of calories increases to 130-150% of the norm;
  4. daily addition of fat-soluble vitamins to food (recommended double daily requirement).

Complications of cystic fibrosis

Complications of cystic fibrosis are formed early, tk. carrying out etiotropic treatment of this disease is impossible at this stage of medical development. Symptomatic therapy can not affect the mechanisms of development of the pathological process.

Therefore, there are complications such as:

  • bronchiectasis syndrome;
  • heart failure (initially right ventricular type, and then joins and left ventricular);
  • respiratory insufficiency;
  • biliary cirrhosis;
  • propensity to heat shock;
  • perforation of the intestine with the development of peritonitis;
  • hypotrophy in childhood.

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

Cystic Fibrosis - code mcb 10

In the international classification of cystic fibrosis diseases is:

ICD-10: Class IV

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

E70-E90 - Metabolic disorders

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