Pediatric Nursing Cardiovascular Disorders Related

Review Pediatric Nursing Cardiovascular Disorders related questions and content

Regarding the genetics of CF:

  • A. The commonest mutation in Caucasians is the ~F-580
  • B. The affected protein is a transmembrane Na channel
  • C. Accurate prenatal diagnosis is possible in all cases
  • D. There are less than 10 mutations causing disease
Correct Answer: B

Rationale: the affected protein in cystic fibrosis (CF) is the cystic fibrosis transmembrane conductance regulator (CFTR), which is a chloride channel, not a sodium channel. The other options are incorrect: (a) The commonest mutation in Caucasians is ΔF508, not ~F-580. (b) Parents of an affected child are typically carriers and do not show symptoms. (c) Prenatal diagnosis is not possible in all cases due to the vast number of mutations. (d) There are over 2000 known mutations causing CF.