Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany
复制标题
DOI：
10.1093/ndt/gfs551
复制
发表时间：
2013-06-01
影响因子：
6.1
通讯作者：
Eng, Charis
中科院分区：
文献类型：
--
作者：
Neumann, Hartmut P. H.;Jilg, Cordula;Eng, Charis
当我们进入基因组医学时代时，疾病的流行病学被认为是理所当然的。准确的患病率数据，特别是罕见疾病（RDs，50/100 000），对于卫生保健和社会规划将变得更加重要。我们注意到，在区域建立的主要遗传性RD登记处中受影响的个体数量与已公布的估计和预期患病率数字不一致。因此，我们假设这种非基于人群的方法高估了RD，并试图通过重新计算一种重要的常见遗传病的患病率来解决这个问题，常染色体显性多囊肾病（ADPKD），假定患病率为100250/100 000德国西部有2727351名居民，在所有肾脏病中心的合作下建立。此外，还与全科医生、内科医生、泌尿科医生、人类遗传学家和神经外科中心联系，以问卷调查人口统计学、家庭和肾功能数据。提供了易感基因PKD 1和PKD 2的种系突变筛查。采用2010年官方人群数据进行总体和肾功能校正患病率估计，共登记891例受试者，658例索引病例和233例亲属，年龄1089岁（平均52岁），应答率为90，其中398例来自肾脏科医生，493例来自非肾脏科医生。分子遗传学分析有助于确诊57例。ADPKD的总患病率为32.7/10万，60岁时患病率最高，为57.3/10万，其患病率被高估了2~5倍，接近RDs的限值，这可能具有广泛的临床、后勤和政策意义。
As we emerge into the genomic medicine era, the epidemiology of diseases is taken for granted. Accurate prevalence figures, especially of rare diseases (RDs, 50/100 000), will become even more important for purposes of health care and societal planning. We noticed that the numbers of affected individuals in regionally established registries for mainly hereditary RDs do not align with published estimated and expected prevalence figures. We therefore hypothesized that such non-population-based means overestimate RDs and sought to address this by recalculating prevalence for an important common hereditary disease, autosomal-dominant polycystic kidney disease (ADPKD) whereby presumed-prevalence is 100250/100 000The Else-Kroener-Fresenius-ADPKD-Study in south-west Germany with a population of 2 727 351 inhabitants was established with the cooperation of all nephrology centres. Furthermore, general practitioners, internists, urologists, human geneticists and neurosurgery centres were contacted with questionnaires for demographic, family and kidney function data. Germline-mutation screening of susceptibility genes PKD1 and PKD2 was offered. Official population data for 2010 were used for overall and kidney function-adjusted prevalence estimations.A total of 891 subjects, 658 index-cases and 233 relatives, aged 1089 (mean 52), were registered, with 90 response rate, 398 by nephrologists and 493 by non-nephrologists. Moleculargenetic analyses contributed to confirmation of the diagnosis in 57. The overall prevalence of ADPKD was 32.7/100 000 reaching a maximum of 57.3/100 000 in the 6th decade of life.Prevalence of ADPKD is overestimated by 2- to 5-fold and close to the limit of RDs which may be of broad clinical, logistic and policy implications.