Clinical case review

Difficulties in diagnosing cystic fibrosis

John Massie
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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?

Article Extract

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.