Cystic fibrosis is a genetic disease caused by a mutation of the gene for the transmembrane regulator of cystic fibrosis.
It is characterized by a violation of the secretion of the excretory glands of vital organs, with primarily affection of the respiratory and gastrointestinal tract, severe course and unfavorable prognosis.
First allocated in 1936 by the Viennese pediatrician Guido Fanconi .
Common signs of cystic fibrosis:
- physical development lag,
- recurrent chronic respiratory diseases,
- nasal polyps,
- persistent current chronic sinusitis,
- chronic bronchitis,
- recurrent pancreatitis,
- respiratory failure.
Manifestations of cystic fibrosis are associated with a defect in protein synthesis, which acts as a chloride channel, which is involved in the water-electrolyte metabolism of the cells of the respiratory tract, gastrointestinal tract, pancreas, liver, reproductive system. As a result, the secret of most glands of external secretion thickens, its secretion becomes difficult, changes occur in the organs, the most serious – in the bronchopulmonary system.
In the walls of the bronchial tree, chronic inflammation of varying severity develops, the connective tissue framework is destroyed, bronchioles form and bronchiectasis. In conditions of constant obstruction by viscous sputum, bronchiectasis becomes common, hypoxia increases, pulmonary hypertension develops and the so-called “pulmonary heart”.
Bronchopulmonary changes predominate in the picture of the disease and determine the prognosis in 95% of patients.
1/3 of the patients have a prolapse of the rectum, but with the appointment of an adequate dose of modern digestive enzymes, this complication passes on its own within 1.5–2 months.
In patients of school age, the first manifestations of cystic fibrosis can be “intestinal colic”, which cause bloating, repeated vomiting, constipation .
After the appointment of enzymes intestinal manifestations are relegated to the background, giving way to the pulmonary. Chronic usually develops gradually bronchitis. Already in the neonatal period and infancy there is a cough, asthma attacks, shortness of breath, and sometimes vomiting. Periodically there is a painful strong cough, especially at night. The mucus is viscous, sometimes purulent.
Since all organs containing mucus-forming glands are affected, colitis syndrome is typical, chronic cholecystitis, sinusitis.
- Sweat test: ionophoresis with pilocarpine. An increase in chlorides of more than 60 mmol / l is a probable diagnosis; chloride concentration> 100 mmol / l – reliable diagnosis. At the same time, the difference in the concentration of chlorine and sodium should not exceed 8–10 mmol / l. A test for final diagnosis should be positive at least three times. Sweat test is necessary for every child with a chronic cough.
- Chymotrypsin in the stool: the sample is not standardized – standard values are developed in a specific laboratory.
- Determination of fatty acids in the stool: normally less than 20 mmol / day. Limit values are 20–25 mmol / day. The sample is positive while reducing the function of the pancreas by at least 75%.
- DNA diagnostics is the most sensitive and specific. False results are obtained in 0.5–3% of cases. In Russia, relatively expensive.
- Prenatal DNA diagnostics: study of small 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 requires an integrated approach. Once again it should be emphasized that it should be held in specialized centers and under their control. Visits to the doctor should occur at least once every 3 months.
Anthropometric data, respiratory function, general blood and urine tests are evaluated. analysis of feces , analysis of sputum for flora and its sensitivity to antibiotics. According to the indications, chest x-rays, echography of the liver and heart are performed, and the immune status is examined.
First of all, a correction is made in the treatment and rehabilitation regime. It is necessary to effectively clean the bronchial tree from viscous sputum, fight infection and ensure good physical development of the patient.
Kinesitherapy includes positional drainage, klopf- massage, vibration, special breathing exercises, active breathing cycles, forced respiratory techniques, autogenic drainage.
It is necessary to use bronchodilators , mucolytics , if possible – amiloride (sodium blocker) and / or “ pulmozyme ” (DNA-ase).
With the defeat of the lungs – the frequent use of antibiotics. They should be prescribed for early signs of inflammation with a course of up to 2-3 weeks.
Mucolytics (drugs that dilute sputum) – an essential attribute of the treatment of cystic fibrosis. They are prescribed both orally and by inhalation: N-acetylcysteine 300–1200 mg / day. Bronchoscopic administration of mucolytics with subsequent suction of secretions and antibiotics at the end of the bronchial lavageprocedure is an effective way of endoscopic drug administration.
In cases of bronchospastic syndrome – inhalation of beta-mimetics, as well as corticosteroids (in inhalation) in order to reduce inflammation in the lungs, nonsteroidal anti-inflammatory drugs.
These drugs 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- antitrypsin, a serum leukocyte protease inhibitor, is justified .
, a serum leukocyte protease inhibitor, is justified .
In the countries of North America and in Europe, a lung transplant or heart-lung complex is being transplanted, and genetically engineered approaches are being developed to correct the function of the mutant gene by using pneumotropic viruses with genetic structures embedded in them. In 1998, a program of gene therapy for cystic fibrosis was started.
With the defeat of the pancreas, constant enzyme therapy is necessary.
Pancreatin, mezim- forte, panzitrat , creon are effective (incrementally). The dose is individual. Usually start with 2-6 thousand units. lipase per kg mass / day. Increase gradually, based on the characteristics of the chair, the child’s weight indicators. Excess doses lead to irritation of the intestinal mucosa, inflammation.
Good effect in liver damage (cholestasis, pre-cirrhosis, cirrhosis ) provides the appointment of ursosan in combination with taurine, which promotes the removal of bile acids, which facilitate the digestion of fats.
Nutrition should exceed the age caloric norms by 10–15%, the introduction of multivitamins and trace elements is mandatory. Protein diet without fat restriction, but with adequate replacement therapy with modern enzymes. Weight loss or a flat weight curve indicates poor enzyme support or an exacerbation of the chronic bronchopulmonary process.
Bacteriological examination of sputum with an antibiotic or a pharyngeal smear once in 6 months and after an exacerbation of the bronchopulmonary process or when the color of the sputum changes (green, blood).
The study of glycolized hemoglobin – in children over 8 years old 1-2 times a year. With impaired glucose tolerance – more often.
Radiography of the chest organs to do with exacerbation of the bronchopulmonary process, especially if you suspect pneumonia. As control – once a year.
An echocardiogram (especially of the right sections, the 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) and blood gases – 1 time per month and after the exacerbation of the bronchopulmonary process.
Body plethysmography : from 8 years old – 1–2 times a year, according to indications – more often.
If liver cirrhosis is suspected – ultrasound, liver function, prothrombin, less often – a biopsy.
- Polypas nose. Steroids inhalation or in the form of ointment applications. Surgical treatment is impractical (the probability of recurrence is high).
- Pneumothorax. Develops in older children and adults. The likelihood of recurrence is high. Rest is necessary, with a volume of less than 10% of pulmonary – a minimum of manipulation. With intense pneumothorax – drainage, pleural puncture.
- Atelectasis. Are required bronchoscopy with bronchoalveolar lavage and the introduction of mucolytics , antibiotics, breathing exercises.
- Pneumonia. General principles of therapy. Draining activities are extremely important.
- Hemoptysis. It looks like an admixture of blood to sputum, most often due to lesions of the bronchial mucosa. In case of pulmonary hemorrhage (300 ml and more simultaneously or more than 100 ml in 3 days) – angiographic embolization or occlusion of a bleeding vessel. In case of failure – vessel ligation or resection of a segment (lobe).
- Pulmonary heart. With adequate therapy, it develops only in adults. They also characterized by heart rhythm disturbances. Preferably the use of corinfar , nifedipine .
- Aspergillosis. Associated with hormone therapy. If aspergillas are found in the sputum by chance and do not manifest clinically, then treatment is not required. Therapy is prescribed for common bronchiectasis , enlargement of the bronchi, increase in pulmonary symptoms, especially with signs of torpid obstruction, increase in total immunoglobulin E ( IgE total ) and specific immunoglobulin E.
- Allergy and asthma . In 25–48% of patients a combination of cystic fibrosis and asthma is observed.
- Solefacial dehydration. It can be not only in newborns, but also in children of different ages and in adults, especially in the hot season. Prevention – drink plenty of fluids and 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.
- Gastric and bleeding from esophageal varicose veins (in case of liver cirrhosis). Endoscopic sclerotherapy is performed. varicose veins, partial resection of the spleen, shunting operations.
- Gallbladder stones .
- Partial intestinal obstruction with thick, viscous stools. In case of occlusion that does not require surgery, washing with gastrographin , gipakom , N-acetylcysteine. In the absence of effect – surgical intervention.
- Pneumatosis intestinal walls can be detected randomly and by themselves do not require intervention.
- Rectal prolapse with adequate enzyme replacement therapy is very rare.
- Pulmonary osteoarthropathy. Along with the deformations of the terminal phalanges, pain may appear in the long tubular bones. 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 exercise, have better indicators of respiratory function and immunity.