Journal article

Publication year: 2014

Pages: 275-280

Journal: Journal of Cystic Fibrosis

Volume number: 13

Issue number: 3

ISSN: 1569-1993

eISSN: 1873-5010

Open access status: Bronze

DOI Link: https://doi.org/10.1016/j.jcf.2013.10.010

Publisher: Elsevier

Abstract: 

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 >60 mmol/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 F508de1 from 55.3 to 63.7 in NL and a de'crease of % with sweat chloride <= 60 mmol/L from 8.4 to 1.1 in B.

Conclusion: 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. (c) 2013 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Harvard Citation style: Thomas, M., Lemonnier, L., Gulmans, V., Naehrlich, L., Vermeulen, F., Cuppens, H., et al. (2014) Is there evidence for correct diagnosis in cystic fibrosis registries?, Journal of Cystic Fibrosis, 13(3), pp. 275-280. https://doi.org/10.1016/j.jcf.2013.10.010

APA Citation style: Thomas, M., Lemonnier, L., Gulmans, V., Naehrlich, L., Vermeulen, F., Cuppens, H., Castellani, C., Norek, A., & De Boeck, K. (2014). Is there evidence for correct diagnosis in cystic fibrosis registries?. Journal of Cystic Fibrosis. 13(3), 275-280. https://doi.org/10.1016/j.jcf.2013.10.010