Epidemiology and genetics of cystic fibrosis in Udmurt Republic
The results of the examination of 62 patients with cystic fibrosis (CF) aged from one month to 29 years living in the Udmurt Republic (UR) are presented. We analyzed the prevalence, population frequency, epidemiological and genetic characteristics of the disease. The frequency of dominant mutations in the UR delF508 mutation is 37.1%, unidentified mutations are more common in patients of Finno-Ugric ethnic group. Some aspects of modern therapy of disease are discussed.

Keywords: dornaza alpha, delF508 mutation, neonatal screening, cystic fibrosis