Nelson J
King Edward Memorial Hospital, Perth, Western Australia.
Hum Genet. 1997 Dec;101(3):355-8. doi: 10.1007/s004390050641.
An epidemiological study of the mucopolysaccharidoses (MPS) in Northern Ireland using multiple ascertainment sources was carried out and the incidence rate for the period 1958-1985 was estimated. An incidence of approximately 1 in 76,000 live births was obtained for MPS 1H (Hurler phenotype); 1 in 280,000 for MPS 1 H/S (Hurler/Scheie phenotype); 1 in 140,000 live births (1 in 72,000 male live births) for MPS II (Hunter syndrome); 1 in 280,000 for MPS III (Sanfilippo syndrome) and 1 in 76,000 for MPS IV A (Morquio syndrome type A). No cases of MPS IS (Scheie phenotype), MPS IV B (Morquio syndrome type B) or MPS VI (Maroteaux-Lamy syndrome) were ascertained during the study period. Three cases of non-immune hydrops fetalis born to consanguineous parents were thought to be due to beta-glucuronidase deficiency (MPS VII) on the basis of placental histology and enzyme studies on both parents but no living cases of MPS VII were ascertained. The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 25,000 live births. A comparison is made with incidence estimates obtained from other published studies.
利用多种确诊来源对北爱尔兰黏多糖贮积症（MPS）进行了一项流行病学研究，并估算了1958年至1985年期间的发病率。MPS 1H（胡尔勒表型）的发病率约为每76,000例活产中有1例；MPS 1 H/S（胡尔勒/谢伊表型）为每280,000例中有1例；MPS II（亨特综合征）为每140,000例活产中有1例（每72,000例男性活产中有1例）；MPS III（桑菲利波综合征）为每280,000例中有1例；MPS IV A（莫尔基奥综合征A型）为每76,000例中有1例。在研究期间未确诊MPS IS（谢伊表型）、MPS IV B（莫尔基奥综合征B型）或MPS VI（马罗泰克斯-拉米综合征）的病例。根据胎盘组织学检查和对父母双方的酶学研究，认为3例近亲父母所生的非免疫性胎儿水肿病例是由于β-葡萄糖醛酸酶缺乏（MPS VII）所致，但未确诊MPS VII的存活病例。所有类型黏多糖贮积症的总体发病率约为每25,000例活产中有1例。并与其他已发表研究得出的发病率估计值进行了比较。
