[Detection of the G551D mutation in a patient with nasal polyps].
Atypical forms of cystic fibrosis can be manifested by a mild affection of the airways in adult age. They are the phenotypic manifestation of less frequent mutations for CF. The authors present the case-history of a man who developed the first symptoms of respiratory disease at the age of 16 years. He had relapsing nasal polyps, sinusitis, bronchial asthma, intolerance of acetylsalicylic acid. Bacteriological examination revealed repeatedly Pseudomonas aeruginosa on the respiratory mucosal membranes. The levels of the chloride ion in sweat were normal, genetic examination revealed a mutation of the gene for cystic fibrosis, G 551 D.
Kuchynková
Z
Z
ORL klinika 1. LF UK, Praha.
Macek
M
M
Holcát
M
M
Macek
M
M
D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009298:Nasal Polyps / Q000235:genetics*
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator