Division of Medical Sciences, University of Dundee, Dundee, UK.
J Cyst Fibros. 2010 Dec;9 Suppl 2:S5-S21. doi: 10.1016/j.jcf.2010.08.002. Epub 2010 Nov 1.
A 35-country European cystic fibrosis (CF) demographic registry was developed to compare outcomes (EuroCareCF EC-FP6).
We applied methods that had successfully created country-specific registries inviting wide participation to obtain consent and collate demographic and CFTR genotype data.
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.
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.
为了比较结果，建立了一个涵盖 35 个国家的欧洲囊性纤维化（CF）人群登记处（EuroCareCF EC-FP6）。
我们应用了成功建立特定于国家的登记处的方法，邀请广泛参与以获得同意，并整理人口统计学和 CFTR 基因型数据。
在 29095 名患者中，存在广泛不同的国家特异性儿童 CF 患病率，这不能用突变 CFTR 的不同人群频率或病例漏诊来解释，而纯合 p.Phe508del 基因型在儿童中出现的比例很高，超过 90%。
可能仍然存在过多的儿童 CF 过早死亡。资源更丰富的西欧现在有~5%的儿童 CF 死亡率，但在报告的许多欧洲国家中并不明显。此外，女性生存劣势存在。需要进一步调查原因。我们展示了在一种罕见疾病中简单数据收集的价值，这可能会引起全球管理罕见疾病的人的兴趣。
