Cystic fibrosis: variability of clinical manifestation [Article in Croatian]

Abstract

The primary defect in cystic fibrosis (CF) is dysfunction of the cystic fibrosis transmembrane regulator (CFTR) caused by mutations in the CFTR gene. Genotype-phenotype correlation studies reveal a complex relationship between the CF phenotype and underlying mutations, with variable correlation in different organs. However, the final expression of the CF disease depends not only on the level of penetrance and expressivity of the CFTR mutation, but also on the involvement of other factors, such as CF modifier-genes and/or environmental factors as well. In the long term genotype-phenotype correlation studies will have more practical implications to diagnosis and prognosis of CF and provide a foundation for improvement management and therapy of CF.