CLINICAL AND GENETIC, MICROBIOLOGICAL AND FUNCTIONAL CHARACTERISTICS OF MOSCOW AND MOSCOW REGION PATIENTS WITH CYSTIC FIBROSIS

The aim of this study was to assess different clinical and genetic, microbiological and functional features of patients with cystic fibrosis living in Moscow and Moscow region on the 31st December, 2010. The mean age of the patients was 12,1±9,6 years (0,2–43,2), the median was 11,0 (16,0) years. Adult patients (older than 18 years) accounted for 30,6%. The diagnosis was established at the median age of — 1,0 (5,0) year; 3,8% of all the patients (12,4% of adults) were diagnosed during adulthood. The prevalence of the most common mutation in the world (F508del) was 52,96%, among adult patients it was mentioned a relatively high prevalence of «mild» genotypes. Among the microbiological structure of respiratory tract involvement a special interest has a high rate of Burkholderia cepacia complex infection (8,7%). A significant frequency increase of pneumothorax, haemoptysis, hypoxemic respiratory failure and diabetes mellitus with fasting hyperglycemia development were found, while the occurrence of hepatocirrhosis and portal hypertension is comparable between children and adult patients.