Prevalence rates of mucopolysaccharidoses in Poland
Prevalence rates of mucopolysaccharidoses in Poland
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DOI：
10.1007/s13353-014-0262-5
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发表时间：
2015-05-01
影响因子：
2.4
通讯作者：
Tylki-Szymanska, Anna
中科院分区：
文献类型：
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作者：
Jurecka, Agnieszka;Lugowska, Agnieszka;Tylki-Szymanska, Anna
这项研究的目的是确定粘多糖病在波兰的患病率，并将其与其他欧洲国家进行比较。实施了一项涵盖1970年至2010年期间的回溯性流行病学调查。多个确定来源被用来识别受影响的患者。粘多糖病在波兰人口中的总体患病率为每10万人中有1.81人患有粘多糖病。在总共392名患者中诊断出五种不同的粘多糖病。MPS III是最常见的粘多糖病，出生患病率为0.86/10万活产儿。总括计划一的发病率约为每100,000名新生儿中有0.22个病例；总括计划二的发病率估计为每100,000名新生儿中有0.45个病例；总括计划IV A和B的发病率为每100,000名新生儿中有0.14个病例；总括计划VI的发病率为每100,000名新生儿中有0.03个病例。1.与荷兰、捷克共和国或德国等其他欧洲国家报告的患病率相比，波兰粘多糖病的流行模式较低，但与瑞典和丹麦等国家相似。2.不同类型粘多糖病的发生频率不同。3.就MPS VI而言，波兰的发病率是迄今为止发表的所有研究中最低的。
The aim of this study was to determine the prevalence rates of mucopolysaccharidoses in Poland and to compare them with other European countries. A retrospective epidemiological survey covering the period between 1970 and 2010 was implemented. Multiple ascertainment sources were used to identify affected patients. The overall prevalence of mucopolysaccharidoses in the Polish population was 1.81 per 100,000. Five different mucopolysaccharidoses were diagnosed in a total of 392 individuals. MPS III was the most frequent mucopolysaccharidosis, with a birth prevalence of 0.86 per 100,000 live births. A prevalence of approximately 0.22 cases per 100,000 births was obtained for MPS I. For MPS II, the prevalence was estimated as 0.45 cases per 100,000 births; for MPS IV A and B as 0.14 cases in 100,000 births; and that for MPS VI as 0.03 cases per 100,000 births. 1. The prevalence pattern of mucopolysaccharidosis in Poland is lower when compared to the prevalence reported for other European countries, such as the Netherlands, Czech Republic, or Germany, but similar to countries like Sweden and Denmark. 2. Different frequencies of the various forms of mucopolysaccharidosis were observed. 3. In the case of MPS VI, the incidence values for Poland were the lowest of all the studies previously published so far.