溶酶体贮积症1520例疾病谱分析  

Disease spectrum analysis of 1520 cases with lysosomal storage disorders

作　　者：常思宇 高晓岚[1] 王瑜[1] 陈婷[1] 占霞 韩连书[1] 邱文娟[1] 顾学范[1] 张惠文[1] Chang Siyu;Gao Xiaolan;Wang Yu;Chen Ting;Zhan Xia;Han Lianshu;Qiu Wenjuan;Gu Xuefan;Zhang Huiwen(Department of Pediatric Endocrinology and Genetic Metabolism,Xinhua Hospital,Shanghai Jiaotong University School of Medicine,Shanghai Institute for Pediatric Research,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院儿内分泌遗传代谢科,上海市儿科医学研究所,上海200092

出　　处：《中华实用儿科临床杂志》2023年第1期60-63,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：上海市科学技术委员会项目(20ZR1446300);上海市教育委员会"高峰高原"计划(20152520)

摘　　要：目的分析上海市单中心溶酶体贮积症(LSDs)疾病谱,探讨不同类型LSDs的流行分布情况。方法回顾性分析。纳入2008年8月至2022年5月在上海交通大学医学院附属新华医院就诊的疑似LSDs患者5476例,其中男3415例,女2061例;中位年龄为4岁(1 d至72岁),利用荧光底物法和生物化学法检测不同溶酶体酶的活性。结果共确诊LSDs患者1520例,其中男972例,女548例;中位年龄为4岁(1 d至59岁);包含19种亚型。黏多糖贮积症(MPS)最常见,占比为45.46%(691/1520),其次为鞘脂贮积病和糖原累积病Ⅱ型,占比分别为33.88%(515/1520)和16.05%(244/1520)。对于MPS,MPSⅡ型最常见,占比为45.73%(316/691),MPSⅣA型次之,占比22.87%(158/691)。尼曼匹克A/B型、戈谢病和球型细胞脑白质营养不良在鞘脂贮积病中常见,占比分别为37.09%(191/515)、34.37%(177/515)和10.29%(53/515)。结论LSDs为常见的遗传代谢病,尤其是MPS和鞘脂贮积病,应尽早开展LSDs筛查,使患儿及早治疗,改善预后。Objective To analyze the disease spectrum of lysosomal storage disorders(LSDs)and explore the prevalent distributions of different LSD types in one center in Shanghai.Methods A retrospective analysis was made.A total of 5476 suspected LSD patients,including 3415 males and 2061 females,with a median age of 4 years(1 day to 72 years),were collected from Xinhua Hospital,Shanghai Jiaotong University School of Medicine from August 2008 to May 2022.The activity of different lysosomal enzymes was detected by fluorescent and biochemical methods.Results A total of 1520 patients were diagnosed with LSDs,including 972 males and 548 females,with a median age of 4 years(1 day to 59 years),involving 19 different subtypes.Mucopolysaccharidosis(MPS)was the most common type among LSDs,with a frequency of 45.46%(691/1520),followed by sphingolipidoses[33.88%(515/1520)]and glycogen storage disease typeⅡ[16.05%(244/1520)]successively.MPSⅡwas the most common type in MPS,with a frequency of 45.73%(316/691),followed by MPSⅣA[22.87%(158/691)].Niemann-Pick A/B,Gaucher,and Krabbe diseases were common in Sphingolipidoses patients,with frequencies of 37.09%(191/515),34.37%(177/515),and 10.29%(53/515),respectively.Conclusions LSDs are common genetic metabolic diseases,especially MPS and sphingolipidoses.Newborn screening for LSDs should be carried out timely so that the patients can be treated early and their prognosis can be improved.

关 键 词：溶酶体贮积症 黏多糖贮积症 鞘脂贮积病 疾病谱 

分 类 号：R725.8[医药卫生—儿科]