title: Is there evidence for correct diagnosis in cystic fibrosis registries?
abstract: BACKGROUND
  Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies comparing similar cohorts.
  
  
  OBJECTIVE
  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 causing mutations in CFTR2, these numbers rose to 10.5, 10.4, 14.5 and 24.3% respectively. Excluding these subjects impacted on outcomes. The impact differed between countries; the largest changes seen were a decrease in % adults from 51.9 to 47.8% in G, a decrease in % pancreas sufficiency from 17.0 to 13.0 in F, an increase in % homozygous for F508del from 55.3 to 63.7 in NL and a decrease of % with sweat chloride ≤60mmol/L from 8.4 to 1.1 in B.
  
  
  CONCLUSIONS
  CF diagnosis is not documented in 10 to 24% of patients included in CF registries. Excluding these patients for analyses leads to significant changes in outcomes.
authors.affiliation: Registre Belge de la Mucoviscidose - Belgisch Mucoviscidose Register - Belgian CF registry (BMR-RBM), Scientific Institute of Public Health (WIV-ISP), Belgium. Electronic address: Muriel.thomas@wiv-isp.be.
authors.forename: Muriel
authors.initials: M
authors.lastname: Thomas
authors.affiliation: Vaincre la Mucoviscidose, France.
authors.forename: Lydie
authors.initials: L
authors.lastname: Lemonnier
authors.affiliation: Dutch CF Foundation (NCFS), The Netherlands.
authors.forename: Vincent
authors.initials: V
authors.lastname: Gulmans
authors.affiliation: Justus-Liebig-University Giessen, Germany.
authors.forename: Lutz
authors.initials: L
authors.lastname: Naehrlich
authors.affiliation: University Hospital of Leuven, Leuven, Belgium.
authors.forename: François
authors.initials: F
authors.lastname: Vermeulen
authors.affiliation: Center For Human Genetics, University of Leuven, Belgium.
authors.forename: Harry
authors.initials: H
authors.lastname: Cuppens
authors.affiliation: Ospedaliera Universitaria Integrata, Verona, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.affiliation: Institute of Mother and Child, Warsaw, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Norek
authors.affiliation: University Hospital of Leuven, Leuven, Belgium.
authors.forename: Kris
authors.initials: K
authors.lastname: De Boeck
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019985:Benchmarking / Q000592:standards*; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D003951:Diagnostic Errors; D005060:Europe; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012042:Registries / Q000592:standards*; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Cystic fibrosis; Diagnosis; Registry