对《糖原贮积病Ⅱ型诊断及治疗专家共识》的解读.pdfVIP

378 . 中国现代神经疾病杂志2014 年5 月第 14 卷第5 期 Chin J Contemp Neurol Neurosurg , May 2014 , Vo l. 14, No. 5 ·标准与指南· 对《糖原贮积病E 型诊断及治疗专家共识》的解读 关鸿志 崔丽英 [摘要l 糖原贮积病E 型是一种罕见的进展性溶酶体贮积病，由位于第 17 号染色体上的酸性α-葡 糖合酶(GAA) 基因突变所致，呈常染色体隐性遗传。明确诊断依靠肌肉组织活检、血清(l-葡糖音酶活性 检测和GAA 基因突变分析。 2006 年以来，人重组仕葡糖苛酶用于该病的治疗，使患者预后显著改善。 2013 年《糖原贮积病 E 型诊断及治疗专家共识》在《中华医学杂志》发表，有助于提高国内相关专科医师 对该病的认识以及诊断与治疗水平。 [关键词] 糖原贮积病H 型; 四葡糖音酶类; 参考标准; 综述 Insight into Consensus recommendations for diagnosis and treatment of glycogen storage disease type 11 GUAN Hong-zhi , CUI Li-ying Department of Ne旷ology， Peking Union Medical College Hospital , Chinese Acαdemy of Medical Sciences αn PekμLI凡~g Uni切01兑t Me剧edi比Cα1 College, Bejíng 100730, China Corresponding αuthor: C ul Li-yí略 (Emαil: pumchcuily@yα) [Abstractl Glycogen storage disease type 11 (GSD 11) is a rare progressive lysosomal storage disease caused by deficiency of acid a-glucosidase (GAA). The gene is located in 17q25.3. Diagnosis has been classically made by means of muscular biopsy. Nowadays it is more convenient to screen GAA in dried blood sample followed by GAA assessment in lymphocytes or fibroblasts or by the genetic analysis of mutations. Besides non - specific multiprofessional management , there is a specific enzyme replacement therapy (ERT) since 2006 which compensates for the missing enzyme by administration of recomhinant produced enzyme. Consensus recommendations for diagnosís and lreatment of glycogen storage disease type 11, published on 八!atl Med J Chinαin 2013 , gives us a novel and compressive insight into this rare disease [Key words 1 Glycogen storage disease type 11; Alpha - glucosidases; Reference standards; Review 原贮积病 H 型的特异性治疗方法←一酶替代治疗 2013 年5 月《中华医学杂志》发表《糖原贮积病 H 型诊断及治疗专家共识~(以下简称《共识~) 1110