糖原贮积病Ⅱ型基因诊断与治疗进展.pdfVIP

386 中国现代神经疾病杂志2014年5月第 14卷第5期 ChinJContempNeurolNeurosurg，May2014，Vo1．14，No．5 - 专 题 综 述 · 糖原贮积病 Ⅱ型基因诊断与治疗进展 张成 杨娟 ￡ 【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 ．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； 葡糖苷酸类； 综述 Progressingeneticdiagnosisandmanagementofglycogenstoragediseasetypell ZHANG Cheng，YANGJuan DepartmentofNeurology，theFirstAffiliatedHospital，SunYat·senUniversity, Guangzhou510080，Guangdong，China 。DepartmentofNeurology,Zh~iangHospitalofSouthernMedicalUniversity， Guangzhou510282，Guangdong，China Correspondingauthor：ZHANGChengfEmail：zhangch6@mail．sysu．edu．cn) A【bstract】 GlycogenstoragediseasetypeII(GSD11)isarareautosomalrecessivehereditary metabolic disorder characterized by progressive atrophy and weakness of skeletalmuscle． Itcan be confirmed by clinicalhistory，acid 仅 ·glucosidase (GAA)testingand GAA mutations． Early targeting treatmentandnursingcanimprovetheprognosisand qualityoflifeofpatientswithGSD Ⅱ．Progressin geneticdiagnosisandmanagementofGSD1／willbereviewedinthispaper． 【Keywords】 GlycogenstoragediseasetypeⅡ； Alpha—glucosidases； Review ThisstudywassupportedbyJointFundofNationalNaturalScienceFoundationofChinaand Natural ScienceFoundationofGuangdongProvinceofChina(No．U1032004)，NationalNaturalScienceFoundation ofChina(No81271401)，SupposingProgram forScienceandTechnologyResearchofChina (No．2012BA109B04)，MajorNew DrugsInnovationandDevelopmentofImportantNationalScience ＆ TechnologySpecificProjects(No．2011zxO9307—0O1)，TechnologyPlanProjectofGuangdongProvince(No． 2011A030400006)，ScienceandTechnologyProjectofPopulationandFamilyPlanningCommissionof GuangdongProvince(No．2009208)，andKeyProjectofPopulationandFamilyPlannin