中国现代神经疾病杂志 ›› 2014, Vol. 14 ›› Issue (5): 386-392. doi: 10.3969/j.issn.1672-6731.2014.05.005

• 专题综述 • 上一篇    下一篇

2 糖原贮积病Ⅱ型基因诊断与治疗进展

张成, 杨娟   

  1. 510080 广州，中山大学附属第一医院神经科（张成）；510282 广州，南方医科大学珠江医院神经内科（杨娟）
  • 出版日期:2014-05-25 发布日期:2014-05-27
  • 通讯作者: 张成 (Email: zhangch6@mail.sysu.edu.cn)
  • 基金资助:

    国家自然科学基金-广东省联合基金重点资助项目（项目编号：U1032004）；国家自然科学基金资助项目（项目编号：30870851）；国家自然科学基金资助项目（项目编号：81271401）；国家科技支撑计划项目（项目编号：2012BAI09B04）；国家科技重大专项课题-重大新药创制（项目编号：2011ZX09307-001）；广东省科技计划项目（项目编号：2011A030400006）；广东省人口和计划生育委员会科技项目（项目编号：2009208）；广东省人口和计划生育委员会重点项目（项目编号：2010102）

Progress in genetic diagnosis and management of glycogen storage disease type Ⅱ

ZHANG Cheng1, YANG Juan2   

  1. 1Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong, China
    2Department of Neurology, Zhujiang Hospital of Southern Medical University, Guangzhou 510282, Guangdong, China
  • Online:2014-05-25 Published:2014-05-27
  • Contact: ZHANG Cheng (Email: zhangch6@mail.sysu.edu.cn)
  • Supported by:

    This study was supported by Joint Fund of National Natural Science Foundation of China and Natural Science Foundation of Guangdong Province of China (No. U1032004), National Natural Science Foundation of China (No. 30870851, 81271401), Supporting Program for Science and Technology Research of China (No. 2012BAI09B04), Major New Drugs Innovation and Development of Important National Science & Technology Specific Projects (No. 2011ZX09307-001), Technology Plan Project of Guangdong Province (No. 2011A030400006), Science and Technology Project of Population and Family Planning Commission of Guangdong Province (No. 2009208), and Key Project of Population and Family Planning Commission of Guangdong Province (No. 2010102).

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摘要： 糖原贮积病Ⅱ型是一种罕见的常染色体隐性遗传性代谢性肌病，以进行性加重的骨骼肌萎缩、无力为特征，依靠临床病史、酸性α-葡糖苷酶（GAA）活性检测和GAA 基因突变分析可以明确诊断。早期诊断可使患者在疾病早期即获得具有针对性的治疗和护理，改善预后和提高生活质量。本文拟就该病基因诊断和治疗进展进行概述。

关键词: 糖原贮积病Ⅱ型, α葡糖苷酸类, 综述

Abstract: Glycogen storage disease type Ⅱ (GSD Ⅱ) is a rare autosomal recessive hereditary metabolic disorder characterized by progressive atrophy and weakness of skeletal muscle. It can be confirmed by clinical history, acid α-glucosidase (GAA) testing and GAA mutations. Early targeting treatment and nursing can improve the prognosis and quality of life of patients with GSD Ⅱ. Progress in genetic diagnosis and management of GSD Ⅱ will be reviewed in this paper.

Key words: Glycogen storage disease typeⅡ, Alpha-glucosidases, Review

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