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| 戈谢病治疗进展 |
| Progress in treatment of Gaucher disease |
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| DOI：10.3969/j.issn.1007-8134.2021.04.017 |
| 中文关键词: 异基因造血干细胞移植 戈谢氏病 溶酶体贮积症 非恶性疾病 |
| 英文关键词: allogeneic hematopoietic stem cell transplantation Gaucher disease lysosomal storage disorder non-malignant disease |
| 基金项目:首都临床特色应用研究（Z18110000718032） |
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| 中文摘要: |
| 戈谢病（Gaucher disease, GD）是基因突变导致患者巨噬细胞内溶酶体缺乏β-葡萄糖脑苷脂酶，致使葡糖脑苷脂在巨噬细胞内大量聚积，从而引起肝脾肿大和骨骼表现，进而出现血液学异常、肝纤维化和门静脉高压的一种溶酶体贮积症。治疗上采用酶替代方法，价格昂贵并且不能纠正中枢神经系统病变。异基因造血干细胞移植是治疗GD的另一种有效方法，生存率约达90%，有很好的前景。此外，基因治疗和底物减少治疗等方法也正在研究中。本文就GD的治疗进展作一综述。 |
| 英文摘要: |
| Gaucher disease (GD) is caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase in macrophages due to gene mutation, which results in the accumulation of glucocerebroside in the lysosomes of macrophages. This accumulation leads to hepatomegaly, splenomegaly and bone manifestations, as well as subsequent hematologic abnormalities, hepatic fibrosis and portal hypertension. Enzyme replacement therapy is an available option, but it is expensive and does not correct the central nervous system lesions. Allogeneic hematopoietic stem cell transplantation has become another effective method for the treatment of GD with a survival rate of about 90% and a good therapeutic prospect. In addition, therapies such as gene therapy and substrate reduction are being investigated. This article reviews the progress in the treatment of GD. |
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