| 溶酶体贮积症的诊断与治疗进展 |
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| 引用本文： | 吴希如,包新华.溶酶体贮积症的诊断与治疗进展[J].北京大学学报(医学版),2005,37(4):440-444. |
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| 作者姓名： | 吴希如 包新华 |
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| 作者单位： | 北京大学第一医院儿科,北京,100034;北京大学第一医院儿科,北京,100034 |
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| 摘 要： | 溶酶体贮积症(1ysosomal storage disorders,LSDs)是一组遗传性代谢性疾病,是由于溶酶体内的酶(主要是酸性水解酶)、激活蛋白、转运蛋白及溶酶体蛋白加工校正酶的缺乏,引起溶酶体功能缺陷,致使代谢物在组织器官贮积所导致的疾病.
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| 关 键 词： | 溶酶体贮积病 诊断 治疗 |
| 文章编号： | 1671-167X(2005)04-0440-05 |
| 修稿时间： | 2004年11月15日 |
Recent advances in the diagnosis and treatment of lysosomal storage diseases |
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| WU Xi-Ru,BAO Xin-hua.Recent advances in the diagnosis and treatment of lysosomal storage diseases[J].Journal of Peking University:Health Sciences,2005,37(4):440-444. |
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| Authors: | WU Xi-Ru BAO Xin-hua |
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| Institution: | Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. icnc@public3.bta.net.cn |
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| Abstract: | SUMMARY Lysosomal storage diseases are a group of genetic disorders that result from the defect in lysosomal function. Signs and symptoms are variable, it is difficult to diagnose this group of disease merely by the clinical manifestation. The diagnosis usually is made by measuring the activity of the corresponding enzyme. Gene mutational analysis is useful for the diagnosis of some of the lysosome storage diseases. The treatment has focused on the replacement of the defective enzyme responsible for the disease and the hematopoietic stem cell transplantation. Both of them have achieved exciting outcomes in some of the diseases. |
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| Keywords: | Lysosomal storage diseases Diagnosis Therapy |
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