Cystic fibrosis

Abstract

This article describes pathogenesis, clinical manifestations and treatment modalities of cystic fibrosis. Characterization of the CFTR gene and identification of the pathogenetic mutations as well as genotype-phenotype associations studies offer extensive insight into the pathogenesis of the disease and the basic knowledge for the development of new diagnostic, prognostic and therapeutic perspectives. Different approaches to symptomatic therapy have already been developed resulting in a dramatic improvement of life expectancy. Today more than 80% of patients reach adulthood.