糖原贮积症Ⅱ型诊断及特异性治疗研究现状  

Current status of research on the diagnosis and specific treatment of glycogen storage disease type Ⅱ

作　　者：王盼 刘颖超[1] 钱素云[1] Wang Pan;Liu Yingchao;Qian Suyun(Pediatric Intensive Care Unit,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院重症医学科,北京100045

出　　处：《中华实用儿科临床杂志》2024年第1期65-68,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家临床重点专科建设项目((2021)451);北京市重大疫情防治重点专科卓越类项目((2021)135)。

摘　　要：糖原贮积症Ⅱ型(GSDⅡ)是一种罕见的常染色体隐性遗传病。婴儿型患者常存在进行性心肌肥厚、肌无力, 最终死于心肺功能衰竭。该病主要通过酶学及基因学检测进行筛查及确诊。酶替代治疗为该病目前唯一获得批准的治疗方式, 可有效改善患者受累器官功能, 提高生存率。基因疗法、底物减少疗法等也在进行基础或临床研究。现总结近年来国内外GSDⅡ的诊治研究现状, 重点对特异性治疗尤其酶替代治疗的疗效影响因素、给药方案、提高疗效方式等进行综述。Glycogen storage disease typeⅡ(GSDⅡ)is a rare autosomal recessive disorder.Infant onset of GSDⅡusually accompanies progressive cardiac hypertrophy and muscle weakness,and eventually dies of cardiopulmonary failure.GSDⅡis mainly screened and diagnosed by enzymatic and genetic tests.Enzyme replacement therapy(ERT)is the only currently approved treatment of GSDⅡ,which can effectively improve the function of the affected organs and the survival.Gene therapy and substrate reduction therapy for GSDⅡare also undergoing basic or clinical research.This review summarizes the current research status of the diagnosis and treatment of GSDⅡat home and abroad,focusing on the influencing factors for the efficacy of specific treatment(especially ERT),dosing regimen,and ways to improve the efficacy.

关 键 词：糖原贮积症Ⅱ型 庞贝病 酶替代治疗 基因治疗 重组人α-葡萄糖苷酶 

分 类 号：R725.9[医药卫生—儿科]