躯体性血管角化症(Fabry病)是一种先天性糖鞘脂分解代谢缺陷疾病,为X连锁隐性基因遗传未被降解的糖鞘脂进行性沉积在心脏、肾、眼等组织和血管内皮、平滑肌细胞内,形成血管角皮瘤。临床表现为四肢感觉异常,皮肤、粘膜疼痛发作,角膜和晶体混浊。肾脏功能受损害,出现蛋白尿,衰弱 Somatic angiosis (Fabry disease) is a congenital disease of glycosphingolipid catabolism, which is a method of depositing glycosphingolipids which are not degraded by X-linked recessive genes in heart, kidney, eye and other tissues and blood vessels Endothelium, smooth muscle cells, the formation of vascular keratoma. Clinical manifestations of abnormal limbs, skin, mucosal pain episodes, corneal and crystalline opacity. Impaired kidney function, proteinuria, weakness