庞贝病神经系统损伤的研究进展

Research progress of nervous system damage in Pompe disease

摘要:

庞贝病（Pompe disease）亦称糖原贮积病Ⅱ型，是常染色体隐性遗传的罕见病，随着酶替代疗法的应用，越来越多的庞贝病患者可存活至成年，以往未曾观察到的神经系统相关临床表现逐渐显现。神经系统受累严重影响庞贝病患者的生活质量，系统了解庞贝病神经系统损伤的病理变化、临床表现、影像学表现，对庞贝病的早期识别、早期干预有重要意义。该文就庞贝病神经系统损伤的研究进展进行综述。

Abstract:

Pompe disease, also known as glycogen storage disease type Ⅱ, is a rare autosomal recessive disease. With the application of enzyme replacement therapy, more and more patients with Pompe disease can survive to adulthood, and nervous system-related clinical manifestations gradually emerge. Nervous system involvement seriously affects the quality of life of patients with Pompe disease, and a systematic understanding of the clinical manifestations, imaging features and pathological changes of nervous system injury in Pompe disease is of great significance for the early identification and intervention of Pompe disease. This article reviews the research progress of neurological damage in Pompe disease.