Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
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DOI：
10.1038/s41431-019-0508-0
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发表时间：
2020-02-01
影响因子：
5.2
通讯作者：
Rath, Ana
中科院分区：
文献类型：
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作者：
Wakap, Stephanie Nguengang;Lambert, Deborah M.;Rath, Ana
罕见疾病是一个新兴的全球公共卫生优先事项，需要对全球点流行率进行循证估计，以便为公共政策提供信息。我们使用了Orphanet数据库中公开可用的流行病学数据来计算这样的流行率估计。总体而言，孤儿网包含关于6172种独特罕见疾病的信息；其中71.9%是遗传疾病，69.9%是完全由儿科发病的。全球点流行率是使用《孤儿网流行病学文件》()中预定义地理区域的罕见疾病流行数据计算的。在由点流行率定义的5304种疾病中，84.5%的被分析疾病的点流行率为
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the 'Orphanet Epidemiological file' (). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of