[Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology].
The generalized exocrinopathy cystic fibrosis (CF) is caused by molecular lesions in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The basic defect of this autosomal-recessive disorder manifests in decreased permeability for chloride ions across the apical epithelial membrane. Of the more than 1,000 known CFTR mutations the most frequent mutation F508del occurs on about 70% of North- and Mideuropean CF chromosomes. CFTR mutations are also causatively involved in male infertility, pancreatitis and several airway diseases like disseminated bronchiectasis. The differential diagnosis between CF, other CFTR-opathies and diseases of unrelated etiology can be achieved by the assessment of clinical symptoms, CFTR mutation analysis and electrophysiological bioassays (sweat test, nasal potential difference, intestinal current measurements).
Tümmler
B
B
Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover. tuemmler.burkhard@mh-hannover.de
Stuhrmann
M
M
D002869:Chromosome Aberrations; D003550:Cystic Fibrosis / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator