Question
True regarding cystic fibrosis is/are?
A. Renal failure
B. Autosomal dominant
C. Mutation in CFTR gene
D. Azoospermia and infertility
E. Sweat CI- and Na+ concentration increased
Show Answer
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Correct Answer » C:D:E
Explanation
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Ans. C, D & E
Renal involvement & failure is not a feature of cystic fibrosis.
Cystic fibrosis is an autosomal recessive disorder of ion transport in epithelial cells that affect fluid secretion in exocrine glands and the epithelial lining of the respiratory, gastrointestinal and reproductive tracts.
Cystic fibrosis occurs due to mutation in the CFTR (Cystic fibrosis transmembrane regulator) gene on long arm of chromosome-7.
CFTR was initially recognized as chloride conductance channel but it is now recognized that CFTR can regulate multiple ion channels and cellular processes.
These include: Chloride channels, Potassium channels, Gap junction channels, Bicarbonate ions.
