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Title: Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries
Authors: Mehta, Gita R.
Macek, Milan St
Mehta, Anil
European Registry Working Group
Yiallouros, Panayiotis K. 
Keywords: Database;Rare disease;Geography;Chronic disease;Genetics;p.Phe508del;CFTR
Category: Clinical Medicine
Field: Medical and Health Sciences
Issue Date: Dec-2010
Publisher: Elsevier B.V.
Source: Journal of Cystic Fibrosis, 2010, Volume 9, Supplement 2, Pages S5-S21
Abstract: Background: A 35 country European cystic fibrosis (CF) demographic registry was developed to compare outcomes (EuroCareCF EC-FP6). Methods: We applied methods that had successfully created country-specific registries inviting wide participation to obtain consent and collate demographic and CFTR genotype data. Results: Among 29,095 patients, a widely different country-specific prevalence of childhood CF exists that cannot be explained by differential population frequency of mutant-CFTR or case under-ascertainment with a significant paucity of the homozygous p.Phe508del genotype that presents in childhood in > 90% of cases. Conclusions: Excess premature childhood CF mortality may still occur. The better resourced Western Europe now has a ~. 5% mortality for childhood CF, which is not apparent in many of the European countries reported here. In addition, a female survival disadvantage exists. The reasons require further investigation. We showcase the value of simple data collection in one rare disease, which might interest those managing rare diseases across the globe.
ISSN: 1569-1993
Rights: © European Cystic Fibrosis Society
Type: Article
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