| 周焕焕¹.Fabry病1例及文献回顾[J].浙江中西医结合杂志,2021,31(3): |
| Fabry病1例及文献回顾 |
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| 投稿时间：2020-08-10 修订日期：2020-10-28 |
| DOI： |
| 中文关键词: Fabry病 α糖苷酶A 鞘糖脂 酶替代疗法 |
| 英文关键词:Fabry disease α-glycosidase A Glycosphingolipid Enzyme replacement therapy. |
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| 中文摘要: |
| Fabry病的特点是α糖苷酶A缺陷,它是一种全身性的遗传性代谢障碍,是X连锁的遗传性疾病,因α糖苷酶A参与鞘糖脂的分解代谢,所以该酶缺陷时会造成组织和血浆中鞘糖脂的沉积,日久鞘糖脂会沉积于全身的各个系统,导致多系统受害其中以肾脏及心脏受累最常见,另外也可见神经系统及皮肤的损害。本文报道一例以神经系统为表现的Fabry病,以期对该病有更进一步的认识。 |
| 英文摘要: |
| Fabry disease is characterized by α-glucosidase A deficiency, it is a systemic inherited metabolic disorders,which is an X-linked genetic disease, because α-glycosidase A is involved in the catabolism of glycosphingolipids, and the enzyme defects lead to tissue and plasma glycosphingolipid deposition.Glycosphingolipids will be deposited in the body of the various systems, resulting in multi-system damage in which the kidney and heart damage is very common,and it is visible in the nervous system and skin damage.This article reports a case of Fabry disease manifested by the nervous system, with a view to a further understanding of the disease. |
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