Fabry肾病临床病理观察  

Renal involvement in Fabry disease: a clinicopathologic observation

作　　者：张静[1] 刘彦仿[1] 刘健[1] 程虹[1] 王汉民[2] 崔继红[1] 任丽君 

机构地区：[1]第四军医大学西京医院病理科,西安710033 [2]第四军医大学西京医院肾内科,西安710033 [3]澄城县医院,陕西澄城715200

出　　处：《诊断病理学杂志》2005年第4期263-266,i0006,共5页Chinese Journal of Diagnostic Pathology

摘　　要：目的阐明具有肾损害的Fabry病的临床病理特点。方法回顾性分析2例具有肾损害的Fabry病患者的临床表现,并对其肾活检组织进行光镜、免疫荧光及超微结构观察。结果2例患者出现蛋白尿、慢性肾功能不全/慢性肾炎;光镜下可见肾小球脏层上皮细胞空泡变性,远端肾小管上皮细胞、肾小球内皮细胞及系膜细胞、间质成分也可出现泡沫样变;病变晚期,肾小球出现节段性和/或球性硬化;超微结构显示肾小球脏层上皮细胞内具有嗜锇性髓鞘样包涵体,表现为“斑马”样外观。结论Fabry病少见。具有肾损害的患者临床可出现蛋白尿,晚期常发展为肾功能衰竭,肾小球脏层上皮细胞内出现嗜锇性髓鞘样小体是Fabry病特征性的形态学改变。Objective To investigate the clinical and pathological characteristics of renal involvement in Fabry disease （FD）. Methods Clinical manifestations of 2 patients with renal involvement in FD were analyzed retrospectively. Light, electron microscopy and immunofluorescence stain were performed in renal tissues from biopsy. Results All patients had proteinuria, chronic nephritis or chronic renal failure. The glomeruli of kidney exhibited vacuolated podocytes. The parietal epithelium of the distal tubular cells, the glomeruli of endothelial cells and mesangial cells, interstitial elements also had the presence of foam cells. The glomeruli exhibited segmental and/or global sclerosis in the terminal stage of FD. On electron microscopy, the deposits appeared as typical osmiophilic myelinic inclusion bodies in the cytoplasm of podocytes, and showed a characteristic ＇ zebra＇ appearance. Conclusion FD is a unique disease. The patients with renal involvement in FD often have proteinuria and progress to end-stage renal failure. The diagnostic morphology of FD is osmiophilic myelinic body in the cytoplasm of podocytes.

关 键 词：FABRY病 超微结构 Α-半乳糖苷酶 

分 类 号：R692[医药卫生—泌尿科学]