Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries

Gita Mehta, Milan Macek, Anil Mehta, European Registry Working Grp

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    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 similar to 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. (C) 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

    Original languageEnglish
    Pages (from-to)S5-S21
    Number of pages17
    JournalJournal of Cystic Fibrosis
    Volume9
    Issue numberS2
    DOIs
    Publication statusPublished - Dec 2010

    Keywords

    • Database
    • Rare disease
    • Geography
    • Chronic disease
    • Genetics
    • p.Phe508del
    • CFTR
    • UK
    • POPULATION
    • AGE
    • SEGREGATION
    • MUTATIONS
    • MORTALITY
    • SURVIVAL
    • OUTCOMES
    • CF

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