Many cell types are affected, including renal epithelial cells, myocardial cells and neuronal cells, endothelial cells, pericytes, and vascular smooth muscle cells, leading to angiokeratoma, acroparesthesias, and vascular disease of the heart, kidneys, and brain.
引起诸多临床表现,如皮肤血管角质瘤,肢端感觉异常以及心脑肾的血管病变等,其中心肌受累也较为常见。 且为导致死亡的常见原因。
参考来源 - 肥厚型心肌病样表现的Fabry病家系临床及其基因发病机制研究·2,447,543篇论文数据,部分数据来源于NoteExpress
N a persistent sensation of numbness and tingling in the hands and feet 手足持续的麻木和刺痛感 [pathol]
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