Is there evidence for correct diagnosis in cystic fibrosis registries?

Last updated on 23-3-2022 by Wesley Van Dessel

Peer reviewed scientific article



Article written during project(s) : 


BACKGROUND: Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies comparing similar cohorts. OBJECTIVE AND METHODS: Explore patient characteristics in Belgian (B), French (F), German (G) and Dutch (NL) registries (total N=13,122) and determine whether they fulfill predefined diagnostic criteria. RESULTS: Using as case definition sweat chloride >60mmol/L or 2 CFTR mutations identified, CF diagnosis was not documented in 2.8, 5.7, 6.5 and 21.6% of subjects in the F, B, NL, and G registries. Restricting CFTR mutation interpretation to 124 CF ca…

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