Cystic Fibrosis

Cystic fibrosis (cystic fibrosis of the pancreas). Etiology, pathogenesis. Hereditary hereditary disease, which is based on the defeat of exocrine glands and increased viscosity of secrets, which leads to lung, pancreas and intestinal involvement, less often - to the liver and kidneys. Pathognomonic is a significant increase in the concentration of chlorine and sodium in the sweat of patients. The essence of the metabolic block in cystic fibrosis has not yet been established; Suggest that the disease is associated with a violation of the synthesis of glycoproteins. In the separated mucous glands there appear products of interaction of glycoproteins and calcium, which increase the viscosity of secretions. The disease is inherited by autosomal recessive type.

Clinical picture. There are several clinical forms of cystic fibrosis: pulmonary, intestinal, mixed (pulmonary-intestinal, and meconial ileus in newborns, and abortive and erased forms of the disease are known.) In most patients, changes in the respiratory system appear in the first half of the year.Objective pertussis-like cough , Early on there are inflammatory and obstructive changes in the lungs.Pneumonia develops in infants, characterized by a severe course and a tendency to abscessing.In older children there are protracted bronchitis with severe bronchospasm.The development of pneumosclerosis with bronchocytosis (chronic pneumonia) is typical.In the lungs constantly Moist wet fine and medium bubbling rales are observed, all patients have emphysema, bacterial sputum examination reveals pathogenic staphylococcus, staphylococcus aureus with hemolytic streptococcus and Pseudomonas aeruginosa X-ray examination reveals emphysema, sharply strengthened and deformed pulmonary pattern, with exacerbations of the disease, infiltrative, focal And cavity shadows. When bronchography is found, deformation and expansion of the bronchi in the zone of limited pneumosclerosis and common bronchial deformities.

The course of the disease is determined by the severity of pulmonary changes. Chronic respiratory failure, emphysema, pneumosclerosis cause the development of deformations of the chest, changes in terminal phalanges of fingers like "drumsticks," the formation of "pulmonary heart." With intestinal form, the signs of impaired absorption (malabsorption) appear to the fore. Characterized by bloating, abundant fatty stools with putrefactive odor, abdominal pain. Disturbances in the splitting and absorption of food lead to the development of hypotrophy. A part of patients develop biliary cirrhosis, which, however, is not recorded in routine biochemical examinations.

Diagnosis. Given the hereditary nature of cystic fibrosis and the absence of specific signs of it, this disease must be excluded in every child with chronic pneumonia or malabsorption syndrome. An additional criterion is the presence in the family of patients with chronic pathology of the lungs, intestines, liver cirrhosis. The most reliable is a sweat test - the determination of the content of electrolytes (chlorine and sodium) in the sweat glands that are separated. In healthy children, their concentration does not exceed 40 mmol / l; In cystic fibrosis, the content of chlorine (or sodium) in the pot varies between 50-180 mmol / l. To determine the reduced proteolytic activity of the stool, an X-ray film test (digestion of a gelatin suspension by an X-ray film slurry) is used. When coprological analysis revealed steatorrhoea. In recent years, for the purpose of mass screening of newborns, a meconial albumin test is used, the content of which is determined by a color reaction or (better) by an immunochemical method. Children who have a content of albumin in meconium exceed 20 mg / g of dry weight are considered suspicious for cystic fibrosis and are subject to a special examination (swallowing test) and dispensary observation. Pathognomonic morphological sign of the disease is cystic fibrosis of the pancreas.

Differential diagnosis is carried out with pertussis, asthmatic bronchitis, bronchiectasis, celiac disease, disaccharidic insufficiency.

Treatment. Exacerbation of pneumonia requires the appointment of antibiotics - pentriksil 100 mg / (kg-day), gentamicin 2 mg / (kg-day), lincomycin 30-50 mg / (kg-day), 30-50 mg / (kg-day), Vibramycin 2 mg / (kg-day), erythromycin 50 mg / (kg-day). It is justified the appointment of penicillin 200 mg <(kg су day) or methicillin 100 mg / (kg Ђ day). The course of treatment with antibiotics is not less than 1 month.

Mucolytic drugs are injected in aerosols: 2% sodium hydrogen carbonate solution, 3% sodium chloride solution, 20% acetylcysteine ​​solution (synonyms - mukonist, mucoscopy, fluimucil). Apply bronchodilator mixture (ephedrine, dimedrol, 0.9% sodium chloride solution, vitamins PP1, B1). Postural drainage and vibrating massage are tactile and are conducted 2 to 8 times a day. Therapeutic bronchoscopy is indicated with inefficiency of aerosol inhalations and postural drainage.

Pancreatin is prescribed in a dose of 2-3 grams per day and gradually increase the dose to achieve the effect (up to 10 g). A useful combination of pancreatin with mexase (contains pancreatin in small amounts, dehydrocholic acid, bromelin and quinoline derivatives). It is shown the appointment of vitamins, especially fat-soluble, which are recommended in a double dosage. In the diet, increase the protein content (up to 5 g / kg) and carbohydrates; Fats restrict.

The prognosis remains serious, the mortality rate reaches 50%. The most effective methods of prevention are medical genetic counseling, as well as early detection of the disease in the neonatal period, although in this case it is not a question of preventing the disease, but of preventing its serious complications.