[Cystic fibrosis--a disease with many faces. The variable clinical picture versus the heterogeneity of molecular defect].
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 disorder. Especially the respiratory symptoms are significantly variable, even among patients with the same CFTR genotype. Therefore, there is an increasing interest in searching for the genetic modifiers of the clinical outcome in CF. This review presents the actual state of knowledge in terms of the potential genes-modifiers of the pulmonary form of cystic fibrosis.
Sobczynska-Tomaszewska
Agnieszka
A
Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa. agnieszk@imid.med.pl
Czerska
Kamila
K
Bal
Jerzy
J
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype