When cystic fibrosis is not the answer: reclassification and follow-up of children with an unresolved diagnosis after extended CFTR gene analysis

Aggregator

27 Oct 2026 0 comments

CONCLUSION: In this cohort from a low-F508del population, extended CFTR analysis reclassified most children away from CF, to CRMS/CFSPID or carrier status. No child progressed to CF during follow-up, although the SCT rose in a subset and five children were reclassified from a previous CF diagnosis. Structured follow-up with periodic reinterpretation of variants may benefit selected children; the role of CFTR modulators in this setting remains undefined.