[Cystic fibrosis--a disease with many faces. The variable clinical picture versus the heterogeneity of molecular defect].

Abstract excerpt

Cystic fibrosis (CF) is the most common genetic disorder in the Caucasian population with an autosomal recessive mode of inheritance. The disease is caused by mutations in the CFTR gene. So far, over 1300 of them have been identified. Primarily, the disease affects the epithelial cells of the airways, pancreas, intestines, gall bladder and sweat glands. However, cystic fibrosis is a clinically heterogeneous...

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