神经鞘脂贮积病(英文)  

Sphingolipidoses of lysosomal storage disorders

作　　者：张惠文[1] 顾学范[1] 叶军[1] 邱文娟[1] 韩连书[1] 吴洁[2] 

机构地区：[1]上海交通大学医学院附属新华医院上海市儿科医学研究所内分泌遗传代谢病研究室 [2]上海交通大学医学院附属新华医院儿内科

出　　处：《临床儿科杂志》2010年第3期201-206,共6页Journal of Clinical Pediatrics

基　　金：supported by Shanghai Rising-Star Program (No.09QA1404700);Shanghai Health Bureau (No.2007145);Chinese Hi-Tech Research and Development Program (No.2007AA02Z447);Shanghai Government Foundations (No.2008ZD001)

摘　　要：目的建立一系列能够确诊神经鞘脂贮积病溶酶体酶活性的测定方法,收集神经鞘脂贮积病发病率方面的数据,为神经鞘脂贮积病的产前诊断打下基础,以降低其出生率。方法在小儿内分泌和遗传代谢病门诊收集疑似神经鞘脂贮积病患者的外周血,用右旋糖苷分离白细胞,然后有选择地测定溶酶体酶活性。其中测定酸性β-葡萄糖苷酶、酸性鞘磷脂酶、半乳糖脑苷脂酶及β-半乳糖苷酶活性使用的是其相应的人工合成荧光底物,测定芳香硫脂酶A活性使用的是比色底物2-羟基-5-硝基苯硫酸氢二钾盐。结果在1年内共检测到17例患儿,分别属于5种不同的神经鞘脂贮积病,包括3例戈谢病、9例尼曼匹克病A/B型、2例异染性脑白质营养不良、2例Krabbe病和1例GM1神经节苷脂贮积病。结论与国外资料比较,国内神经鞘脂贮积病诊断的病例明显偏少,在临床工作中需加强对此类疾病的认识。Objective Sphingolipidoses are a group of rare genetic disorders caused by catabolism defect of sphingolipids by lysosomal hydrolases with diverse presentations,and represent an important health problem to almost all ethnic populations.To date,there is no epidemiologic study on the prevalence of sphinglipidoses,individually,or as a group,in China.We set up a series of enzymatic assays that could make definite diagnoses with the aim to collect data for an epidemiologic investigation of sphingolipidoses and also pave the way to prenatal diagnosis to decrease the rate of inborn error of metabolism.Methods Patients with suspected sphingolipidosis were recruited from pediatric endocrinology and inherited metabolism outpatient clinics of Xinhua Hospital.Leukocytes were isolated with dextran from peripheral bloods.Activities of leukocyte acid β-glucosidase,acid sphingomyelinase,arylsulphatase A,galacto- cerebrosidase,beta-galactosidase were measured using their specific artificial fluorescent substrates,while arylsulfatase A was determined by a colorimetric assay with dipotassium 2-hydroxy-5-nitrophenyl sulfate as the substrate.Results In one year,we identified 17 patients with 5 different kinds of sphingolipidoses,including 3 patients with Gaucher disease,9 patients with Niemann-Pick type A / B,2 patients with metachromatic leukodystrophy,2 patients with Krabbe disease,and 1 patient with GM1 gangliosidosis.We made brief descriptions of disease characters of each different kind disease and compared our results with findings of other ethnic groups.Conclusions Sphinglipidoses was markedly under-diagnosed in China and general pediatricians should be alerted to sphinglipidoses.

关 键 词：神经鞘脂贮积病 溶酶体贮积病 先天性代谢缺陷疾病 

分 类 号：R725.8[医药卫生—儿科]