Ethnicity impacts the cystic fibrosis diagnosis: A note of caution. - PubMed - NCBI

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution. - PubMed - NCBI

J Cyst Fibros. 2017 Feb 20. pii: S1569-1993(17)30023-1. doi: 10.1016/j.jcf.2017.01.016. [Epub ahead of print]

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.

Bosch B1, Bilton D2, Sosnay P3, Raraigh KS4, Mak DY5, Ishiguro H6, Gulmans V7, Thomas M8, Cuppens H9, Amaral M10, De Boeck K9.

Author information

Abstract

BACKGROUND:

The diagnosis of Cystic Fibrosis (CF) is by consensus based on the same parameters in all patients, yet the influence of ethnicity has only scarcely been studied. We aimed at elucidating the impact of Asian descent on the diagnosis of CF.

METHODS:

We performed a retrospective analysis of the CFTR2 and UK CF databases for clinical phenotype, sweat chloride values and CFTR mutations and compared the diagnostic characteristics of Asian to non-Asian patients with CF.

RESULTS:

Asian patients with CF do not have a worse clinical phenotype. The repeatedly reported lower FEV1 of Asian patients with CF is attributable to the influence of ethnicity on lung function in general. However, pancreatic sufficiency is more common in Asian patients with CF. The diagnosis of CF in people with Asian ancestry is heterogeneous as mean sweat chloride values are lower (92±26 versus 99±22mmol/L in controls) and 14% have sweat chloride values below 60mmol/L (versus 6% in non-Asians). Also, CFTR mutations differ from those in Caucasians: 55% of British Asian patients with CF do not have one mutation included in the routine newborn screening panel.

CONCLUSIONS:

Bringing together the largest cohort of patients with CF and Asian ethnicity, we demonstrate that Asian roots impact on all three CF diagnostic pillars. These findings have implications for clinical practice in the increasingly ethnically diverse Western population.

Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

KEYWORDS:

Asian ethnicity; CFTR2; Cystic fibrosis diagnosis; Newborn screening panel; UK CF registry

PMID:

 

28233695

 

DOI:

 

10.1016/j.jcf.2017.01.016

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Last Posted: Mar 03, 2017

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