TY - JOUR T1 - The impact of genotype on clinical course of cystic fibrosis (CF) in adult patients JF - European Respiratory Journal JO - Eur Respir J VL - 42 IS - Suppl 57 SP - P1179 AU - Stanislav Krasovskij AU - Elena Amelina AU - Viktor Samoylenko AU - Nika Petrova AU - Anna Stepanova AU - Alexander Polyakov AU - Marie-Pierre Audrézet AU - Claude Férec AU - Maria Usacheva Y1 - 2013/09/01 UR - http://erj.ersjournals.com/content/42/Suppl_57/P1179.abstract N2 - The aim of the study was to investigate the correlation between the type of mutation in CFTR gene and clinical severity of the disease in adult patients.Materials. 273 adult CF patients were included. All patients had both mutations indentified. Group 1 had a combination of 2 “severe” mutations of class I-III, group 2 had at least one “mild” mutation, class IV-V.Results. 187 patients belonged to group 1; 86 – to group 2. Age at diagnosis for “mild” genotype was 14,6 years, for “severe” genotype – 1,9 years (p<0,001). 35 % of group 1 patients were diagnosed in adulthood, of group 2 – 5,9% (p<0,001). Sweat chlorides in groups 1 and 2 were 102 and 87 mmol/l respectively (p=0,03). The median age of respiratory manifestation in group 1 was 1,0 years, in group 2 - 3,5 years (p=0,02). CF related diabetes (CFRD), liver cirrhosis with portal hypertension (LC) and distal intestinal obstruction syndrome (DIOS) were seen in group 1 only - 22,5 %, 6,4 % and 7,0 % respectively. The frequency of hypoxic respiratory failure, pulmonary hypertension, cholelithiasis and low bone mass density had no significant diference between the groups as well as BMI and spirometry parameters. Pancreatic insufficiency affected 99,5 % of patients in group1 and 10,5 % in group 2. Median survival in group 2 was 40,2 years, higher than in group 1 - 31,0 years (p=0,028).Conclusion. The “severity” of CF genotype has an impact on the age of manifestation, diagnosis, and some of the CF complications in adult CF patients; “mild” genotype is associated with low risk of CFRD, LC and DIOS. Nutritional status and respiratory function was not affected by CFTR genotype in CF adults. “Mild” genotype is associated with better survival. ER -