Barbara Bosch1, Diana Bilton2, Patrick Sosnay3, Karen S Raraigh4, Denise Y F Mak5, Hiroshi Ishiguro6, Vincent Gulmans7, Muriel Thomas8, Harry Cuppens9, Margarida Amaral10, Kris De Boeck9. 1. Pediatric Pulmonology, University Hospitals Leuven, Leuven, Belgium; Organ Systems, KU Leuven, Leuven, Belgium. Electronic address: barbara.bosch@uzleuven.be. 2. NIHR Specialist Respiratory Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust and Imperial College, London, UK. 3. Pulmonary & Critical Care Medicine, Johns Hopkins University, Baltimore, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA. 4. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA. 5. Cystic Fibrosis Canada, Toronto, Canada. 6. Human Nutrition, Nagoya University Graduate School of Medicine, Nagoya, Japan. 7. Research Department, Dutch Cystic Fibrosis Foundation, Baarn, The Netherlands. 8. Belgium Cystic Fibrosis Registry (BMR-RBM), Scientific Institute of Public Health (WIV-ISP), Brussels, Belgium. 9. Pediatric Pulmonology, University Hospitals Leuven, Leuven, Belgium. 10. University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Lisboa, Portugal.
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.
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.