Open AccessCLINICAL AND GENETIC FEATURES OF CYSTIC FIBROSIS IN KIROV REGION
Author(s) -
А. А. Пшеничникова,
A. V. Galanina,
E. V. Novichkov
Publication year - 2014
Publication title -
problemy zdorovʹâ i èkologii
Language(s) - English
Resource type - Journals
eISSN - 2708-6011
pISSN - 2220-0967
DOI - 10.51523/2708-6011.2014-11-2-30
Subject(s) - cystic fibrosis , disease , medicine , mutation , pancreatic disease , fibrosis , pathology , pancreas , genetics , biology , gene
The prevalence of cystic fibrosis in people in Kirov region has been studied taking into account the regional clinical and genetic features of the disease. The most common mutation of cystic fibrosis is F508del. The predominant clinical form of cystic fibrosis is a mixed form of the severe course of the disease. Cystic fibrosis with F508del mutation is accompanied by a slowly progressive chronic bronchopulmonary process and marked by pancreatic insufficiency.