Paediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
J Hum Genet. 2016 Apr;61(4):345-9. doi: 10.1038/jhg.2015.155. Epub 2016 Jan 7.
Lysosomal storage disorders (LSDs) are a group of >50 different types of inherited metabolic disorders that result from defects in the lysosome. The aim of this study was to investigate the distribution and demographic characteristics of the different subtypes of LSDs in Eastern China. From 2006 to 2012, 376 out of 1331 clinically suspected patients were diagnosed with 17 different subtypes of LSDs at our hospital. Mucopolysaccharidoses (MPS) were the most common group of LSDs (50.5%), followed by sphingolipidoses (25.4%) and Pompe disease (19.8%). Mucolipidosis type II/III accounted for the remaining 4% of diagnosed LSDs. MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%). Gaucher disease and Niemann-Pick disease type A/B were the two most common forms of sphingolipidoses. There was a large variation in the time between disease onset and eventual diagnosis, from 0.3 years in infantile-onset Pompe disease to 30 years in Fabry disease, highlighting timely and accurate diagnosis of LSDs as the main challenge in China.
溶酶体贮积症（LSDs）是一组由 50 多种不同类型的遗传性代谢紊乱引起的疾病，这些疾病是由于溶酶体的缺陷所致。本研究旨在调查中国东部地区不同 LSD 亚型的分布和人口统计学特征。2006 年至 2012 年，我院共诊断出 17 种不同亚型的 LSDs，其中 376 例来自于 1331 例临床疑似患者。黏多糖贮积症（MPS）是最常见的 LSD 组（50.5%），其次是鞘脂贮积症（25.4%）和庞贝病（19.8%）。黏脂贮积症 II/III 占诊断出的 LSDs 的其余 4%。MPS II 是最常见的 MPS 形式，占所有 MPS 病例的 47.4%，其次是 MPS IVA（26.8%）和 MPS I（16.3%）。戈谢病和尼曼-匹克病 A/B 是两种最常见的鞘脂贮积症形式。从婴儿型庞贝病的发病到最终诊断的时间差异很大，从 0.3 年到 30 年不等，这突出了 LSDs 的及时和准确诊断是中国面临的主要挑战。
