[Cystic fibrosis in a woman aged seventy].
A seventy-year-old woman was admitted to hospital with a Staphylococcus aureus respiratory tract infection. She had a history of extensive bronchiectasis and allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis (CF) was suspected and cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis showed F508del and R117H-7T mutations. In these mutations there is residual activity in the chloride channel in the cell membrane coded by the CFTR gene. This results in a much milder disease pattern varying from no disease at all to isolated organ disease. This type of disease is known as non-classical cystic fibrosis. In our patient the diagnosis of cystic fibrosis was made exceptionally late in life.
Ras
Janneke E
JE
Meander Medisch Centrum, afd. Longziekten, Amersfoort, the Netherlands.
van Velzen
Edwin
E
van Berkhout
Ferdinand Teding
FT
van den Brand
Joop J G
JJ
D000368:Aged; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation
D019005:Cystic Fibrosis Transmembrane Conductance Regulator