Cystic fibrosis: symptoms, diagnosis, treatment

Cystic fibrosis - a genetic disease caused by mutations in the gene for cystic fibrosis transmembrane regulator.

Characterized by impaired secretion of secretory glands vital organs with lesions primarily the respiratory and gastrointestinal tract, severe disease and poor prognosis.

First isolated in 1936 Viennese pediatrician Guido Fanconi.

symptoms of cystic fibrosis

Common symptoms of cystic fibrosis:

• the lag in physical development,
• recurrent chronic respiratory diseases,
• nasal polyps,
• stubbornly persistent current antritis,
• Chronical bronchitis,
• palindromic pancreatitis,
• respiratory failure.

Manifestations of cystic fibrosis are associated with protein synthesis defect, performing the role of the chloride channel participating in water-electrolyte metabolism airway cells, gastrointestinal tract, pancreas, liver, genital system. In the end, the secret thickens most exocrine glands, hampered by his selection in the organs there are changes, the most serious - in the bronchopulmonary system.

In the walls of the bronchial tree develops a chronic inflammation of varying severity, destroyed connective tissue framework, and formed bronhiolo-

bronchiectasis. In conditions of constant obstruction viscous sputum bronchiectasis are common, growing hypoxia, pulmonary hypertension, and the so-called "pulmonary heart".

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

In 1/3 patients experiencing rectal prolapse, but the appointment of an adequate dose of modern digestive enzymes is a complication of their own goes through 1,5-2 months.

Patients school age first manifestations of cystic fibrosis can be "intestinal colic", which cause bloating, recurrent vomiting, constipation.

Following the appointment of enzymes intestinal manifestations are sidelined, giving way to the lung. Usually gradually developing chronic bronchitis. Already in the neonatal period and infancy, there is coughing, asthma attacks, shortness of breath and sometimes vomiting. Periodically there is a painful coughing, especially at night. Viscous sputum, sometimes purulent.

Since it affects all organs containing the slime glands typical of colitis syndrome, chronic cholecystitis, sinusitis.

Diagnostics

• Sweat test: iontophoresis with pilocarpine. Increased chloride 60 mmol / l - probable diagnosis; chloride concentration> 100 mg / dL - reliable diagnosis. The difference in concentrations of chlorine and sodium should not exceed 8-10 mmol / l. Sweat test for a definitive diagnosis must be positive at least three times. Sweat test should be carried out every child with chronic cough.
• Chymotrypsin in the stool: the sample is not standardized - standard values ​​developed in a particular laboratory.
• Determination of fatty acids in stool: normally less than 20 mmol / day. Borderline values ​​- 20-25 mg / day. A sample is positive for reducing pancreatic not less than 75%.
• DNA diagnosis of the most sensitive and specific. False results are obtained in 0.5-3% of cases. In Russia, it is relatively expensive.
• Prenatal DNA diagnosis: study of intestinal alkaline phosphatase isoenzymes of amniotic fluid is possible with 18-20 weeks of pregnancy. False positive and false negative values ​​obtained in 4% of cases.

cystic Fibrosis treatment

Treatment of cystic fibrosis requires a comprehensive approach. Once again it should be emphasized that it should be carried out in specialized centers and under their control. Visits to the doctor must take place at least once in 3 months.

Evaluate anthropometric data, lung function, common blood and urine tests, fecal, Sputum on flora and its sensitivity to antibiotics. Under indications carry out chest X-ray, ultrasound scan of the liver and the heart examined the immune status.

First of all, make a correction in the treatment and rehabilitation regime. It is necessary to effectively clean the bronchial tree from the viscous mucus, fight infection and provide good physical development of the patient.

Kinesitherapy includes positional drainage klopf massage, vibration, special breathing exercises, active cycle of breathing, forced breathing techniques, autogenic drainage.

Required use of bronchodilators, mucolytics, if possible - amiloride (sodium blocker) and / or "Pulmozim '(DNA-ase).

If it affects the lungs - the frequent use of antibiotics. They should be appointed at the earliest signs of inflammation with courses lasting up to 2-3 weeks.

Mucolytics (drugs, thinning mucus) - an indispensable attribute of cystic fibrosis therapy. Assign both inside and inhaled: N-acetyl cysteine ​​300-1200 mg / day. Mucolytics bronchoscopic administration followed by suction secretions and antibiotics at the end of the bronchial lavage procedure - endoscopic effective way of drug administration.

In cases of bronchospastic syndrome - inhaled beta-mimetics and corticosteroids (in inhaled) in order to reduce inflammation in the lung, non-steroidal antiinflammatory drugs.

These tools reduce the inflammatory reaction of the bronchial tree, which sometimes bring more harm than the actual infectious agent. From this point of view is justified use of alpha-one antitrypsin, serum leukocyte protease inhibitor.

In North America and in Europe, produce lung transplant or complex heart - lung, as well as developing Genetic engineering approaches to correction of a mutant gene function by applying pneumotropic viruses with embedded genetic constructs. In 1998 started gene therapy program for cystic fibrosis, and in Russia.

Pancreatic lesion is necessary to keep the enzyme therapy.

Effective (on the rise) pancreatin mezim forte, panzitrat, Creon. The dose is individual. Usually start with 2-6 thousand units. lipase per kg of weight / day. Increase gradually, based on the characteristics of the chair, the child's weight indicators. Exceeding the dose leads to irritation of the intestinal mucosa, inflammation.

A good effect in the liver injury (cholestasis predtsirroz, cirrhosis) Provides assignment ursosan combined with taurine, promoting the excretion of bile acids, which facilitate the digestion of fats.

Meals should exceed age-calorie norm of 10-15%, carefully administering of multivitamins, trace elements. Protein diet without restriction of fats, but with adequate replacement therapy modern enzymes. Weight loss or weight flat curve indicates poor maintenance of enzymatic or exacerbation of chronic bronchopulmonary process.

Bacteriological examination of sputum smear antibiotikogrammy or throat once in 6 months after acute bronchopulmonary process sputum or changes color (green, impurity blood).

Investigation of glycated hemoglobin - in children older than 8 years 1-2 times a year. at impaired glucose tolerance - more often.

Chest X-ray done at an exacerbation of bronchopulmonary process, especially in cases of suspected pneumonia. How to control - once a year.

Echocardiogram (especially right heart, pulmonary artery) at least once a year.

ECG: 1-2 times a year, according to testimony - often.

Lung function tests: external respiration function (typically - 6 years) and blood gases - 1 times a month and after acute bronchopulmonary process.

Body plethysmography: 8 years - 1-2 times a year, according to testimony - often.

Suspected of cirrhosis of the liver - ultrasound, liver function, prothrombin, At least - a biopsy.

Complications of cystic fibrosis and their therapy

• nasal polyps. Steroids inhalation or in the form of ointment applications. Surgical treatment is inappropriate (high probability of relapse).
• Pneumothorax. Develops in older children and adults. The likelihood of recurrence is high. Rest at least 10 volume% of lung - a minimum of manipulation. If tension pneumothorax - drainage, pleural puncture.
• Atelectasis. required bronchoscopy with bronchoalveolar lavage and administration of mucolytics, antibiotics, respiratory gymnastics.
• Pneumonia. General principles of therapy. Crucial draining event.
• Hemoptysis. It looks like an admixture of blood in the sputum, often caused by lesions of the bronchial mucosa. For pulmonary haemorrhage (300 ml or more at one time or over 100 ml in 3 days) - Angiographic embolization, or occlusion of the bleeding vessel. On failure - ligation of a vessel or resection segment (share).
• Pulmonary heart. only adults developed with adequate therapy. He also peculiar and heart rhythm disturbances. It is desirable to use corinfar, nifedipine.
• Aspergillosis. Associated with hormone therapy. If Aspergillus are found in the sputum of chance and do not manifest clinically, the treatment is not required. Therapy is indicated for common bronchiectasis, bronchiectasis, pulmonary symptoms build-up, especially with attributes torpid obstruction, increase of total immunoglobulin E (IgE total) And specific immunoglobulin E.
• Allergy and asthma. In 25-48% of patients have a combination of cystic fibrosis and asthma.
• Soledefitsitnoe dehydration. It may be not only in the newborn, but also in children of different ages and adults, especially in the hot season. Prevention - fluids and salts adequate intake (3-8 g / day).
• Diabetes. It develops very slowly and gradually. Observed in 2% of children and 15% of adults with cystic fibrosis.
• And gastric bleeding from esophageal varices (liver cirrhosis). Carried out endoscopic sclerotherapy varicose veins, partial resection of the spleen, the shunt operation.
• Gallstones.
• Partial blockage of the intestine with the thick viscous chair. When blockage that does not require surgical intervention, - washing Gastrografin, Hypaque, N-acetylcysteine. If no effect - surgery.
• pneumatosis bowel wall can be detected by chance and by itself does not require intervention.
• Rectal prolapse with adequate enzyme replacement therapy is very rare.
• Pulmonary osteoarthropathy. Along with deformations terminal phalanges may appear pain in long tubular bones. To alleviate the condition prescribed NSAIDs (ibuprofen, diclofenac and others.).

Chest deformation developed as a result of lung disease.

Forecast

Patients with good physical development have a better prognosis in cystic fibrosis. They are more active, better tolerate exercise have better lung function and immunity.