Journalartikel

Jahr der Veröffentlichung: 2014

Seiten: 275-280

Zeitschrift: Journal of Cystic Fibrosis

Bandnummer: 13

Heftnummer: 3

ISSN: 1569-1993

eISSN: 1873-5010

Open Access Status: Bronze

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

Verlag: 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-Zitierstil: 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-Zitierstil: 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