Krabbi Külliki, Joost Kairit, Zordania Riina, Talvik Inga, Rein Reet, Huijmans Jan G M, Verheijen Frans V, Õunap Katrin
Institute of Chemistry, Faculty of Sciences, Tallinn University of Technology, Tallinn, Estonia.
Genet Test Mol Biomarkers. 2012 Aug;16(8):846-9. doi: 10.1089/gtmb.2011.0307. Epub 2012 Apr 5.
Previous studies on the prevalence of mucopolysaccharidoses (MPS) in different populations have shown considerable variations. There are, however, few data with regard to the prevalence of MPSs in Fenno-Ugric populations or in north-eastern Europe, except for a report about Scandinavian countries. A retrospective epidemiological study of MPSs in Estonia was undertaken, and live-birth prevalence of MPS patients born between 1985 and 2006 was estimated. The live-birth prevalence for all MPS subtypes was found to be 4.05 per 100,000 live births, which is consistent with most other European studies. MPS II had the highest calculated incidence, with 2.16 per 100,000 live births (4.2 per 100,000 male live births), forming 53% of all diagnosed MPS cases, and was twice as high as in other studied European populations. The second most common subtype was MPS IIIA, with a live-birth prevalence of 1.62 in 100,000 live births. With 0.27 out of 100,000 live births, MPS VI had the third-highest live-birth prevalence. No cases of MPS I were diagnosed in Estonia, making the prevalence of MPS I in Estonia much lower than in other European populations. MPSs are the third most frequent inborn error of metabolism in Estonia after phenylketonuria and galactosemia.
以往针对不同人群黏多糖贮积症（MPS）患病率的研究显示出相当大的差异。然而，除了一篇关于斯堪的纳维亚国家的报告外，关于芬诺-乌戈尔人群或欧洲东北部MPS患病率的数据很少。爱沙尼亚开展了一项关于MPS的回顾性流行病学研究，并估算了1985年至2006年期间出生的MPS患者的活产患病率。所有MPS亚型的活产患病率为每10万例活产中有4.05例，这与大多数其他欧洲研究结果一致。MPS II的计算发病率最高，每10万例活产中有2.16例（每10万例男性活产中有4.2例），占所有确诊MPS病例的53%，是其他欧洲研究人群的两倍。第二常见的亚型是MPS IIIA，活产患病率为每10万例活产中有1.62例。MPS VI的活产患病率在每10万例活产中有0.27例，排第三。爱沙尼亚未诊断出MPS I病例，这使得爱沙尼亚MPS I的患病率远低于其他欧洲人群。在爱沙尼亚，MPS是继苯丙酮尿症和半乳糖血症之后第三常见的先天性代谢缺陷。
