Fabry病合并IgA肾病临床病理特点分析  

Clinicopathological features in patients with Fabry disease combined with IgA nephropathy

作　　者：尹广[1] 刘正钊[1] 程震[1] 陈惠萍[1] 曾彩虹[1] 刘志红[1] 

机构地区：[1]南京军区南京总医院国家肾脏疾病临床医学研究中心全军肾脏病研究所,南京210002

出　　处：《中华实用诊断与治疗杂志》2014年第5期458-459,共2页Journal of Chinese Practical Diagnosis and Therapy

摘　　要：目的总结Fabry病合并IgA肾病的临床病理特点。方法回顾性分析2例Fabry病合并IgA肾病患者的临床资料。结果 2例患者均为男性,1例表现为蛋白尿并镜下血尿,高血压,肾功能正常;1例表现为蛋白尿,肾功能正常;2例外周血α-半乳糖苷酶A活性均较正常降低;光镜下均见肾小球足细胞空泡变性呈蜂窝状,足细胞胞质内见嗜甲苯胺蓝颗粒;电镜下足细胞胞质内大量髓样小体;均有肾小球系膜增生病变,伴有IgA弥漫颗粒状沉积于系膜区。结论Fabry病合并IgA肾病临床表现缺乏特异性,但具有特征性病理形态学改变,肾组织活检是确诊主要依据。Objective To analyze the clinicopathological features of Fabry disease combined with IgA nephropathy. Methods Two patients with Fabry disease combined with IgA nephropatby were retrospectively analyzed the clinical data. Results Two patients were males, one of which presented with proteinuria, microscopic hematuria and hypertension, and the other patient presented with proteinuria. Both of them had normal renal function and dereased α- galactosidase A activity in comparison with normal value. A systematic histologic examination of renal biopsy revealed cytoplasmic vacuolization of podocytes under light microscopy, and marked blue bodies in podocytes with toluidine blue stained semi-thin sections. The inclusion of myelin figures in podocytes was observed under electron microscopy. Immunofluorescent study showed positive IgA staining at mesangial areas with mild mesangial expansion. Conclusions Fabry disease combined with IgA nephropathy lacks specific clinical manifestations, but has characteristic pathological changes. Renal biopsy result provides the main basis for the diagnosis.

关 键 词：FABRY病 IGA肾病 Α-半乳糖苷酶A 

分 类 号：R692.3[医药卫生—泌尿科学]