Current status of research on the diagnosis and specific treatment of glycogen storage disease type Ⅱ
王盼 1刘颖超 1钱素云 1廉珍珍
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作者信息
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
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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 type Ⅱ (GSDⅡ) is a rare autosomal recessive disorder.Infant onset of GSDⅡ usually accompanies progressive cardiac hypertrophy and muscle weakness, and eventually dies of cardiopulmonary failure.GSDⅡ is 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 GSDⅡ are also undergoing basic or clinical research.This review summarizes the current research status of the diagnosis and treatment of GSDⅡ at home and abroad, focusing on the influencing factors for the efficacy of specific treatment (especially ERT), dosing regimen, and ways to improve the efficacy.
Abstract
Glycogen storage disease type Ⅱ (GSDⅡ) is a rare autosomal recessive disorder.Infant onset of GSDⅡ usually accompanies progressive cardiac hypertrophy and muscle weakness, and eventually dies of cardiopulmonary failure.GSDⅡ is 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 GSDⅡ are also undergoing basic or clinical research.This review summarizes the current research status of the diagnosis and treatment of GSDⅡ at 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
Key words
Glycogen storage disease type Ⅱ/Pompe disease/Enzyme replacement therapy/Gene therapy/Recombinanthumanalglucosidase alfa
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