Khan Shaukat A, Peracha Hira, Ballhausen Diana, Wiesbauer Alfred, Rohrbach Marianne, Gautschi Matthias, Mason Robert W, Giugliani Roberto, Suzuki Yasuyuki, Orii Kenji E, Orii Tadao, Tomatsu Shunji
Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States.
Centre for Molecular Diseases, Service for Genetic Medicine, University Hospital Lausanne, Switzerland.
Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26.
The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. A retrospective epidemiological data collection was performed in Switzerland between 1975 and 2008 (34years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12, 24, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3 and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS is also reported to be higher in these countries. Birth prevalence of MPS II in Switzerland and other European countries is comparatively lower. The birth prevalence of MPS III and IV in Switzerland is higher than in Japan but comparable to that in most other European countries. Moreover, the birth prevalence of MPS VI and VII was very low in both, Switzerland and Japan. Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of MPS, as seen for other rare genetic diseases. Methods for identification of MPS patients are not uniform across all countries, and consequently, if patients are not identified, recorded prevalence rates will be aberrantly low.
本研究的目的是获取日本和瑞士不同类型黏多糖贮积症的流行病学数据，并与其他国家的类似数据进行比较。日本的数据收集于1982年至2009年期间，共识别出467例黏多糖贮积症患者。合并出生患病率为每10万活产1.53例。黏多糖贮积症II型的出生患病率最高，为0.84，占所有黏多糖贮积症的55%。黏多糖贮积症I型、III型和IV型分别占15%、16%和10%。黏多糖贮积症VI型和VII型较为罕见，分别占1.7%和1.3%。瑞士在1975年至2008年（34年）期间进行了回顾性流行病学数据收集，共识别出41例存活的黏多糖贮积症患者。合并出生患病率为每10万活产1.56例。黏多糖贮积症II型的出生患病率最高，为0.46，占所有黏多糖贮积症的29%。黏多糖贮积症I型、III型和IV型分别占12%、24%和24%。与日本人群情况相同，黏多糖贮积症VI型和VII型较为罕见，分别占7.3%和2.4%。日本黏多糖贮积症II型的高出生患病率与其他东亚国家相当，在这些国家该型黏多糖贮积症约占所有类型的50%。一些欧洲国家（德国、北爱尔兰、葡萄牙和荷兰）的出生患病率也相似，不过据报道这些国家其他类型黏多糖贮积症的患病率也较高。瑞士和其他欧洲国家黏多糖贮积症II型的出生患病率相对较低。瑞士黏多糖贮积症III型和IV型的出生患病率高于日本，但与大多数其他欧洲国家相当。此外，瑞士和日本黏多糖贮积症VI型和VII型的出生患病率都非常低。总体而言，由于种族背景差异和/或奠基者效应影响了每种类型黏多糖贮积症的出生患病率，黏多糖贮积症在不同人群中的发病频率各不相同，其他罕见遗传病也是如此。各国识别黏多糖贮积症患者的方法并不统一，因此，如果患者未被识别，记录的患病率将会异常低。
