发育医学电子杂志 Vol. 1 185-189
结构畸形
标准·方案·指南
糖原贮积病II型诊断及治疗专家共识
中华医学会儿科学分会内分泌遗传代谢学组
Expert consensus on diagnosis and therapy of glycogen storage type Ⅱ
Pediatrics Subassociation of Chinese Medical Association, Endocrine and Genetic Metabonomics Research Group
摘要 糖原贮积病Ⅱ型(glycogen storage disease type lI，GSD II，MIM 232300)也称为酸性0【一葡 糖苷酶缺乏症(acid—Ot--glucosidase deficiency)1932 年荷兰病理学家Pompe首次报道本病，故常称为庞 贝病(Pompe病)。GSD II是一种罕见的常染色体隐 性遗传的进展性溶酶体贮积病，是目前所知惟一属 于溶酶体贮积病的糖原贮积病。编码酸性仪一葡糖 苷酶(acid alpha—glucosidase，GAA)的基因——GAA 基因(MIM 606800)位于17q25．3，由于GAA基因突 变，溶酶体内GALA活性缺乏或显著降低，糖原不能 被降解而沉积在骨骼肌、心肌和平滑肌等细胞的溶 酶体内，导致溶酶体肿胀、细胞破坏及脏器功能损 害，并引起一系列临床表现。根据发病年龄、受累器 官和疾病进展速度，临床上将GSDⅡ分为婴儿型和 晚发型两大类[1]? 。发病率约1／40 000---1／50 000活婴， 但存在种族及地区差异[2-3] 。2006年人重组酸性d一 葡糖苷酶(rhGAA)正式应用于GSD II治疗后，患者 的预后明显改善[4] 。
关键词:
font-size:14px 糖原贮积病Ⅱ型 ')" href="#">">糖原贮积病Ⅱ型
酸性葡糖苷酶缺乏症
庞贝病
出版日期: 2013-07-30
发布日期: 2019-09-06
期的出版日期: 2013-07-30
引用本文:
中华医学会儿科学分会内分泌遗传代谢学组 中华医学会儿科学分会神经学组 . 糖原贮积病II型诊断及治疗专家共识 [J]. 发育医学电子杂志, 2013, 1(3): 185-189.
Expert consensus on diagnosis and therapy of glycogen storage type Ⅱ . Journal of Developmental Medicine(Electronic Version), 2013, 1(3): 185-189.
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