Pinto Rui, Caseiro Carla, Lemos Manuela, Lopes Lurdes, Fontes Augusta, Ribeiro Helena, Pinto Eugénia, Silva Elisabete, Rocha Sónia, Marcão Ana, Ribeiro Isaura, Lacerda Lúcia, Ribeiro Gil, Amaral Olga, Sá Miranda M C
Instituto de Genética Médica Jacinto de Magalhães, Porto, Portugal.
Eur J Hum Genet. 2004 Feb;12(2):87-92. doi: 10.1038/sj.ejhg.5201044.
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on its prevalence has been reported in the literature. The overall birth prevalence of the 29 different LSDs studied in the Portuguese population was calculated to be 25/100000 live births, twice the prevalence previously described in Australia and in The Netherlands. The comparison of the prevalence profile of the LSDs presenting a prevalence higher than 0.5/100000 in the Portuguese, Dutch and Australian populations showed, in the Portuguese, the existence of a higher prevalence of GM2 gangliosidoses (B variant), mucolipidoses (II and III), Niemman-Pick type C and metachromatic leukodystrophy (MLD), and a lower prevalence of Pompe and Fabry. The highest prevalence value for a single LSD is the one of GM2 gangliosidoses (B variant), corresponding to 3/100000, a value which is significantly higher than the prevalence of the most frequent LSD in Dutch, Pompe disease (2/100000) and Australians, Gaucher's disease (GD) (1.8/100000). It is worth noting that the highest prevalence of GM2 gangliosidoses found in the Portuguese is mainly due to the existence of a unique subtype, the rare juvenile B1 variant.
溶酶体贮积症（LSDs）是一组遗传性代谢紊乱疾病，每种疾病都被视为罕见病，文献中关于其患病率的数据报道较少。对葡萄牙人群中研究的29种不同溶酶体贮积症的总体出生患病率进行计算，结果为每100000例活产中有25例，是之前在澳大利亚和荷兰所描述患病率的两倍。对葡萄牙、荷兰和澳大利亚人群中患病率高于0.5/100000的溶酶体贮积症的患病率概况进行比较发现，在葡萄牙人群中，GM2神经节苷脂病（B型变异）、粘脂贮积症（II型和III型）、尼曼-匹克C型和异染性脑白质营养不良（MLD）的患病率较高，而庞贝病和法布里病的患病率较低。单一溶酶体贮积症的最高患病率值是GM2神经节苷脂病（B型变异）的患病率，为3/100000，该值显著高于荷兰最常见的溶酶体贮积症——庞贝病（2/100000）以及澳大利亚最常见的溶酶体贮积症——戈谢病（GD）（1.8/100000）的患病率。值得注意的是，在葡萄牙人群中发现的GM2神经节苷脂病的高患病率主要归因于一种独特的亚型——罕见的青少年B1型变异的存在。
