目的　报道 2个Fabry病家族的临床及病理特点 ,讨论血管改变对疾病发展的影响。方法　 2例先证者均为男性患儿 ,以发作性肢端疼痛、血管角质瘤及肾损害为主要表现 ,伴多系统受累症状。先证者 1家族中多人发病 ,在疾病晚期出现心、肾、脑的损害 ;先证者 2家族中也有人死于肾功能衰竭。对 2例先证者进行腓肠神经活检 ,其中 1例进行肾脏活检。结果　髓鞘染色显示血管内皮细胞、平滑肌细胞及神经束衣内大量绿色颗粒沉积 ,在半薄切片沉积物表现为嗜锇颗粒 ,电镜下为髓样结构。在先证者 2的肾脏毛细血管内皮细胞内也见到类似沉积物。生化检查发现先证者 1 ,肾素 血管紧张素系统活性升高。结论　 2例先证者的临床及病理改变符合Fabry病的诊断。除了脂质沉积导致的血管原发病变外 ,肾素系统活性升高和继发高血压是疾病晚期多器官损害的重要原因 Objective To report the clinical and pathological features of two Fabry families and to discuss the effect of vascular changes on the development of the disease. Methods 2 cases of proband were male children, with the onset of acral pain, angiogenesis and renal damage as the main performance, with multiple system involvement symptoms. Proximals 1 many people in the family disease, late in the disease heart, kidney, brain damage; proband 2 family also died of renal failure. Two cases of probands were subjected to sural nerve biopsy, of which 1 case had a kidney biopsy. Results Myelin staining showed the deposition of a large number of green particles in vascular endothelial cells, smooth muscle cells and nerve bundles. The semi-thin sections showed osmiophilic granules and myeloid structure under electron microscope. Similar deposits are seen in the renal capillary endothelial cells of proband 2. Biochemical tests found that proband 1, renin angiotensin system activity. Conclusions The clinical and pathological changes of 2 probands are in line with the diagnosis of Fabry’s disease. In addition to the primary vascular lesions caused by lipid deposition, the renin system activity and secondary hypertension are important causes of advanced multiple organ damage