庞贝病诊断与治疗的研究进展

庞贝病（Pompe disease）又称Ⅱ型糖原贮积症，是一种由于缺乏酸性α-葡糖苷酶（GAA）引起糖原在溶酶体内贮积的罕见常染色体隐性遗传疾病，尤以骨骼肌、心肌和平滑肌受累最为严重。患者表现为呼吸困难和运动障碍，伴或不伴有肥厚性心肌病。GAA基因突变具有种族和地域差异，随着研究的进展人们不断发现新的突变位点。庞贝病诊断的金标准是基因分析，传统方法如皮肤肌肉活检与干血斑样本检测对其诊断具有局限性。近年出现的产前诊断与新生儿筛查对其早期诊断具有重要意义。酶替代治疗（ERT）的效果令人满意，但可能引起免疫不耐受。新兴的靶向基因治疗、改进的ERT治疗有望在未来投入应用。该文就目前庞贝病的诊断和治疗的研究进展做一综述。

Research advances in the diagnosis and treatment of Pompe disease

Pompe disease, also called type Ⅱ glycogen storage disease, is a rare autosomal recessive inherited disease caused by the storage of glycogen in lysosome due to acid α-glucosidase (GAA) defciency, with the most severe conditions in the skeletal muscle, the myocardium, and the smooth muscle. Patients may have the manifestations of dyspnea and dyskinesia, with or without hypertrophic cardiomyopathy. GAA gene mutation has ethnic and regional differences, and new mutation sites are found with the advances in research. Gene analysis is the gold standard for the diagnosis of Pompe disease. Conventional methods, such as skin and muscle biopsies and dried blood spot test, have certain limitations for the diagnosis of this disease. In recent years, prenatal diagnosis and newborn screening play an important role in early diagnosis of this disease. Enzyme replacement therapy (ERT) has a satisfactory effect in the treatment of this disease, but it may lead to immune intolerance. New targeted gene therapy and modified ERT will be put into practice in the future. This article reviews the research advances in the diagnosis and treatment of Pompe disease.