戈谢病的外科研究进展

The research progress of surgical aspects for Gaucher disease

戈谢病是一种罕见的常染色体隐性遗传病,它由溶酶体酶——葡萄糖脑苷脂酶的缺乏引起,其底物葡萄糖脑苷脂在巨噬细胞中蓄积。戈谢细胞浸润骨髓、脾脏、肝脏,从而导致血细胞减少、脾大、肝脏肿大和骨髓病变。其临床表现多样,代谢过程复杂,与恶性肿瘤、骨质疏松和帕金森病关系密切。戈谢病特异性治疗包括酶替代疗法及底物减少疗法,在我国戈谢病治疗中,外科治疗占重要地位。文章针对戈谢病外科治疗近年研究进展进行综述。

Gaucher disease is a rare autosomal recessive genetic disease caused by the deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. Gaucher cells infiltrate the bone marrow, spleen, and liver, resulting in cytopenias, splenomegaly, hepatomegaly, and bone marrow lesions. It has various clinical manifestations, complex metabolic processes, and is closely related to malignant tumors, osteoporosis and Parkinson's disease. Disease-specific treatment includes intravenous enzyme replacement therapy (ERT) and substrate reduction therapy(SRT). Surgical treatment is very significant in the field of Gaucher disease in our country. The paper mainly aims to review the research progress of surgical aspeds for Gaucher disease.