Cystic fibrosis

Cystic fibrosis.

Cystic fibrosis is a genetic disease caused by a mutation in the gene for the transmembrane regulator of cystic fibrosis.

It is characterized by impaired secretion of the excretory glands of vital organs with damage primarily to the respiratory and gastrointestinal tract, severe course and poor prognosis.

First isolated in 1936 by the Viennese pediatrician Guido Fanconi.

Symptoms of cystic fibrosis.

Common signs of cystic fibrosis:

_ physical lag,
_ recurrent chronic respiratory diseases,
_ nasal polyps,
_ persistent chronic sinusitis,
_ Chronical bronchitis,
_ recurrent pancreatitis,
_ respiratory failure.

The manifestations of cystic fibrosis are associated with a defect in protein synthesis, which acts as a chloride channel involved in the water-electrolyte metabolism of cells in the respiratory tract, gastrointestinal tract, pancreas, liver, and reproductive system. As a result, the secretion of most of the glands of external secretion thickens, its secretion becomes difficult, changes occur in the organs, the most serious – in the bronchopulmonary system.

Chronic inflammation of varying severity develops in the walls of the bronchial tree, the connective tissue frame is destroyed, and bronchiolo- and bronchiectasis are formed. In conditions of constant blockage of viscous sputum, bronchiectasis becomes widespread, hypoxia increases, pulmonary hypertension and the so-called “cor pulmonale” develop.

Bronchopulmonary changes predominate in the picture of the disease and determine the prognosis in 95% of patients.

In 1/3 of patients, rectal prolapse is observed, but with the appointment of an adequate dose of modern digestive enzymes, this complication goes away on its own in 1.5–2 months.

In school-age patients, the first manifestations of cystic fibrosis may be “intestinal colic”, which cause bloating, repeated vomiting, and constipation.

After the appointment of enzymes, intestinal manifestations are relegated to the background, giving way to pulmonary. Chronic bronchitis usually develops gradually. Already in the neonatal period and infancy, there is a cough, asthma attacks, shortness of breath, and sometimes vomiting. Periodically, there is a painful severe cough, especially at night. The sputum is viscous, sometimes purulent.

Since all organs containing mucus-forming glands are affected, colitis syndrome, chronic cholecystitis, sinusitis are typical.


Sweat test: iontophoresis with pilocarpine. An increase in chlorides of more than 60 mmol / l is a probable diagnosis; chloride concentration> 100 mmol / l is a reliable diagnosis. In this case, the difference in the concentration of chlorine and sodium should not exceed 8-10 mmol / l. A sweat test must be positive at least three times for a definitive diagnosis. A sweat test should be done for every child with a chronic cough.

Stool chymotrypsin: sample not standardized – guideline values ​​are developed in a specific laboratory.

Determination of fatty acids in stool: normally less than 20 mmol / day. The borderline values ​​are 20-25 mmol / day. The test is positive with a decrease in pancreatic function by at least 75%.

DNA diagnostics is the most sensitive and specific. False results are obtained in 0.5–3% of cases. It is relatively expensive in Russia.

Prenatal DNA diagnostics: the study of intestinal alkaline phosphatase isoenzymes from amniotic fluid is possible from 18–20 weeks of gestation. False positive and false negative values ​​are obtained in 4% of cases.

Treatment of cystic fibrosis

Treatment of cystic fibrosis requires an integrated approach. Once again, it should be emphasized that it should be carried out in specialized centers and under their control. Doctor visits should be made at least once every 3 months.

Anthropometric data, respiratory function, general blood and urine tests, stool analysis, sputum analysis for flora and its sensitivity to antibiotics are assessed. According to the indications, a chest x-ray, an echography of the liver and heart are performed, and the immune status is examined.

First of all, a correction is made to the treatment and rehabilitation regime. It is necessary to effectively cleanse the bronchial tree from viscous sputum, fight infection and ensure the good physical development of the patient.

Kinesotherapy includes positional drainage, Klopf massage, vibration, special breathing exercises, active breathing cycles, forced breathing technique, autogenous drainage.

It is obligatory to use bronchodilators, mucolytics, if possible – amiloride (sodium blocker) and / or “pulmozyme” (DNase).

With lung damage – frequent use of antibiotics. They should be prescribed at early signs of inflammation with courses lasting up to 2-3 weeks.

Mucolytics (drugs that thin sputum) are an indispensable attribute of the treatment of cystic fibrosis. Assign both internally and by inhalation: N-acetylcysteine ​​300-1200 mg / day. Bronchoscopic administration of mucolytics followed by suction of secretions and antibiotics at the end of the bronchial lavage procedure is an effective way of endoscopic administration of drugs.

In cases of bronchospastic syndrome – inhalation of beta-mimetics, as well as corticosteroids (in inhalation) in order to reduce inflammation in the lungs, non-steroidal anti-inflammatory drugs.

These agents reduce the inflammatory reactions of the bronchial tree, which sometimes do more harm than the infectious agent itself. From this point of view, the use of alpha-one antitrypsin, a serum leukocyte protease inhibitor, is justified.

In the countries of North America and Europe, lungs or heart-lungs are transplanted, and genetic engineering approaches are being developed to correct the function of the mutant gene by using pneumotropic viruses with built-in genetic constructs. In 1998, a program of gene therapy for cystic fibrosis was launched in Russia as well.

In case of damage to the pancreas, constant enzyme therapy is required.

Effective (incrementally) pancreatin, mezim-forte, panzitrate, creon. The dose is individual. Usually they start with 2-6 thousand units. lipase per kg of body weight / day. Increase gradually, based on the characteristics of the stool, indicators of the child’s weight. Exceeding the dose leads to irritation of the intestinal mucosa, inflammation.

A good effect on liver damage (cholestasis, pre-cirrhosis, cirrhosis) is provided by the appointment of ursosan in combination with taurine, which promotes the excretion of bile acids, which facilitate the digestion of fats.

Nutrition should exceed the age-specific calorie norms by 10-15%, the introduction of multivitamins and microelements is mandatory. Protein diet without restriction of fats, but with adequate replacement therapy with modern enzymes. Weight loss or a flat weight curve indicates poor enzyme supply or an exacerbation of chronic bronchopulmonary disease.

Bacteriological examination of sputum with an antibioticogram or a smear from the throat once every 6 months and after an exacerbation of the bronchopulmonary process or when the sputum color changes (green color, admixture of blood).

Examination of glycated hemoglobin – in children over 8 years old, 1-2 times a year. With reduced glucose tolerance – more often.

Chest X-ray should be done with exacerbation of the bronchopulmonary process, especially if pneumonia is suspected. As a control – once a year.

Echocardiogram (especially of the right sections, pulmonary artery) at least once a year.

ECG: 1-2 times a year, according to indications – more often.

Functional tests of the lungs: the function of external respiration (usually from 6 years old) and blood gases – once a month and after an exacerbation of the bronchopulmonary process.

Bodyplethysmography: from 8 years old – 1-2 times a year, according to indications – more often.

If liver cirrhosis is suspected – ultrasound examinations, hepatic functions, prothrombin, less often biopsy.

Complications of cystic fibrosis and their therapy

Polyps of the nose. Steroids by inhalation or in the form of ointment applications. Surgical treatment is impractical (the likelihood of relapse is high).
Pneumothorax. It develops in older children and adults. The likelihood of recurrence is high. Rest is required, with a volume of less than 10% of the lung – a minimum of manipulations. With tension pneumothorax – drainage, pleural puncture.
Atelectasis. Bronchoscopy with bronchoalveolar lavage and administration of mucolytics, antibiotics, breathing exercises are required.
Pneumonia. General principles of therapy. Drainage measures are essential.
Hemoptysis. It looks like an admixture of blood to sputum, most often due to damage to the bronchial mucosa. In case of pulmonary hemorrhage (300 ml or more at the same time or more than 100 ml in 3 days) – angiographic embolization or occlusion of a bleeding vessel. In case of failure, ligation of the vessel or resection of the segment (lobe).
Pulmonary heart. With adequate therapy, it develops only in adults. They are also characterized by heart rhythm disturbances. The use of corinfar, nifedipine is desirable.
Aspergillosis. Associated with hormone therapy. If aspergillus is found in sputum accidentally and does not manifest clinically, then treatment is not required. Therapy is prescribed for widespread bronchiectasis, bronchial dilatation, an increase in pulmonary symptoms, especially with signs of torpid obstruction, an increase in total immunoglobulin E (IgE total) and specific immunoglobulin E.
Allergies and asthma. A combination of cystic fibrosis and asthma is observed in 25–48% of patients.
Salt deficiency dehydration. It can be not only in newborns, but also in children of different ages and in adults, especially in the hot season. Prevention – drinking plenty of fluids and a sufficient intake of salts (3–8 g / day).
Diabetes. It develops very slowly, gradually. It is observed in 2% of children and in 15% of adults with cystic fibrosis.
Bleeding stomach and from varicose veins of the esophagus (with cirrhosis of the liver). Endoscopic sclerotherapy of varicose veins, partial resection of the spleen, shunting operations are performed.
Gallbladder stones.
Partial intestinal obstruction, with thick, viscous stools. In case of blockage that does not require surgical intervention, flush with gastrografin, hypaque, N-acetylcysteine. If there is no effect, surgical intervention.
Pneumatosis of the intestinal wall can be detected by chance and does not require intervention by itself.
Rectal prolapse with adequate enzyme replacement therapy is very rare.
Pulmonary osteoarthropathy. Along with deformities of the terminal phalanges, pain in the long tubular bones may appear. To alleviate the condition, nonsteroidal anti-inflammatory drugs (ibuprofen, diclofenac, etc.) are prescribed.
Chest deformities develop as a result of lung damage.


Patients with good physical development have a better prognosis for cystic fibrosis. They are more active, better tolerate physical activity, have better indicators of the function of external respiration and immunity.