ISSN 2073–4034
eISSN 2414–9128

Epidemiology And Genetics Of Cystic Fibrosis In Udmurt Republic

T.V. Simanova, A.M. Ozhegov

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

cystic fibrosis
neonatal screening
delF508 mutation
dornaza alpha

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