Abstract
Background and Objectives The prevalence of cystic fibrosis (CF) among Asians (A) is low. Yet A with CF may have a worse course than non-Asians (NA) [1]. The diagnosis of CF is based on (1) clinical phenotype (Ph), (2) sweat chloride (SCl) and (3) CFTR mutation analysis (M). Whether and how ethnicity impacts these criteria has been studied poorly. We aimed to analyze Ph, SCl and M of A and NA with CF. Methods A cross sectional analysis of CFTR2 and the UK CF registry allowed comparing 415 A and 39,952 NA with CF for: 1.Ph by meconium ileus (MI), pancreatic status (PS), lung function (LF) (FEV1 %predicted) and chronic Pseudomonas aeruginosa (PA) infection 2.SCl 3.M of both alleles Statistical analysis was done in SPSS. Results Compared to NA, A were younger (mean age 16 vs 19 years, p 2 p=0.002). The FEV1 of A with CF was reduced (68±22 vs 71±20 %pred, p Ongoing research will validate these findings for other CF databases. Conclusion A with CF are younger and more often pancreas sufficient. Their genotype corrected SCl is lower than in NA. Genetic diversity is high which is challenging for newborn screening.
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