Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004

American Journal of Medical Genetics, Part A - Tập 149A Số 5 - Trang 960-964 - 2009
Hsiang‐Yu Lin1,2,3,4, Chih‐Kuang Chuang1,5, Dau‐Ming Niu6,3, Ming‐Ren Chen2,4, Fuu‐Jen Tsai7, Mei‐Chyn Chao8, Pao‐Ching Chiu9, Shio‐Jean Lin10, Li‐Ping Tsai11, Wuh‐Liang Hwu12, Ju‐Li Lin13
1Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
2Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
3Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan
4Mackay Medicine, Nursing and Management College, Taipei, Taiwan
5Medical College, Fu-Jen Catholic University, Taipei, Taiwan
6Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
7Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
8Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung, Taiwan
9Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan
10Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan
11Department of Pediatrics, Buddhist Tzu Chi General Hospital, Taipei Branch, Taipei, Taiwan
12Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
13Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan

Tóm tắt

AbstractPrevious studies on the incidence of the various types of mucopolysaccharidoses (MPS) in different populations have shown considerable variation. However, information regarding the incidence of MPS in the Asian population is lacking. An epidemiological study of the MPS disorders in Taiwan using multiple ascertainment sources was undertaken, and incidences of different types of MPS during the period of 1984–2004 were estimated. We compared our data with previous reports in different populations. The combined birth incidence for all MPS cases was 2.04 per 100,000 live births. MPS II (Hunter syndrome) had the highest calculated birth incidence of 1.07 per 100,000 live births (2.05 per 100,000 male live births), comprising 52% of all MPS cases diagnosed. The birth incidences of MPS I (Hurler syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), and VI (Maroteaux‐Lamy syndrome) were 0.11, 0.39, 0.33, and 0.14 per 100,000 live births, respectively, which accounted for 6%, 19%, 16%, and 7% of all MPS, respectively. No cases of MPS III D (Sanfilippo syndrome type D), MPS IV B (Morquio syndrome type B), MPS VII (Sly syndrome) or MPS IX were ascertained during the study period. Overall incidence of MPS in Taiwan was consistent with that reported in Western populations. However, in contrast to the higher incidence of MPS I in most Western populations, this study showed a higher incidence of MPS II in Taiwan. It remains to be investigated whether this discrepancy is attributed to the under‐diagnosis of MPS I in Taiwan or to ethnic differences. © 2009 Wiley‐Liss, Inc.

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Thông tin xuất bản

American Journal of Medical Genetics, Part A

Tập 149A Số 5

960-964

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