摘要
Abstract
Glycogen storage disease type Ⅱ(GSD Ⅱ),also known as Pompe disease,is a common autosomal re-cessive lysosomal storage disease with predominantly muscle tissue involvement,and it is caused by defects in the GAA gene which encode acid α-D-glucosidase in lysosomes.According to the age of onset and the main organs involved,it is classified into infant-onset Pompe disease(IOPD)and late-onset Pompe disease(LOPD).The diagnosis of this disease de-pends on the reduction in GAA enzyme activity,the detection of GAA gene mutations,and muscle tissue biopsy,and early diagnosis and treatment are crucial for prognosis.Recombinant human GAA(rhGAA)enzyme replacement therapy prepared by the gene recombination technology is currently the main disease-modifying treatment method for Pompe dis-ease,among which the earliest drug alglucosidase α has shown good efficacy in improving muscle strength and respiratory function and prolonging survival time,and the new-generation rhGAA drugs avalglucosidase α and cipaglucosidase alfa provide new options,especially for patients with poor outcomes and severe symptoms.Substrate ablation therapy and gene therapy are still under exploration,and disease-modifying therapies combined with nutritional and exercise therapies and multidisciplinary long-term management will achieve twice the result with half the effort.关键词
庞贝病/诊断/疾病修正治疗/酶替代疗法/营养运动疗法Key words
Pompe disease/Diagnosis/Disease-modifying therapy/Enzyme replacement therapy/Nutri-tion-exercise therapy分类
医药卫生
