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宁波市首位使用酶替代疗法的晚发型糖原贮积症Ⅱ型患者1例护理

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摘要 糖原贮积病Ⅱ型又称蓬佩病或酸性麦芽糖酶缺乏症,病因是由于酸性α-葡糖苷酶(GAA)基因突变导致酶活性降低或缺乏,糖原不能分解而贮积在各种组织的溶酶体内[1],导致溶酶体肿胀、细胞破坏及脏器功能损害,并出现一系列临床表现。根据发病年龄、疾病进展和器官受累程度,分为婴儿型蓬佩病与晚发型蓬佩病;主要治疗包括酶替代疗法,以及对症支持治疗[2]。
出处 《中国乡村医药》 2021年第20期73-74,共2页
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