Peer Reviewed
Clinical case review
Difficulties in diagnosing cystic fibrosis
Abstract
What is the management plan for a 7-year-old boy with a family history of cystic fibrosis (CF) who has had many bouts of abdominal pain and long-lasting chest infections but tested negative for CF on newborn screening?
Key Points
Case scenario
Luke is a 7-year-old boy whose father is known to carry the common cystic fibrosis (CF) gene mutation p.F508del (formerly ΔF508). Two of his father’s four siblings died from CF at an early age. Luke’s mother is negative for p.F508del and does not carry any of the seven other most common CF gene mutations.
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