Liu Ying, Xie Hua, Lin Hongli, Chen Shuni, Wang Weidong, Zhao Guangben, Zhang Xu
Department of Nephrology, the First Hospital of Dalian Medical University, Dalian, China.
Iran J Kidney Dis. 2016 Jan;10(1):48-50.
A 21-year-old man with no family history or characteristic symptoms of Fabry disease presented with proteinuria. Histological and immunofluorescent analysis of kidney tissue collected revealed stage 1 membranous nephropathy. Electron microscopy of the same tissue revealed a large number of myeloid bodies (zebra bodies) in the glomerular epithelial cytoplasm and a mild irregular thickening of basement membrane. A diagnosis of Fabry disease was supported by the low α-galactosidase A activity detected in the patient's plasma, and confirmed by the detection of a pathogenic homozygous mutation in the α-galactosidase A gene. Therefore, the final diagnosis was of coexistent Fabry disease and stage 1 membranous nephropathy. This is the first case study reporting the coexistence of Fabry disease and membranous nephropathy. Our results emphasize the importance of electron microscopy in Fabry disease diagnosis.
一名21岁男性，无法布里病家族史及典型症状，出现蛋白尿。对所采集的肾组织进行组织学和免疫荧光分析，结果显示为1期膜性肾病。对同一组织进行电子显微镜检查，发现肾小球上皮细胞质中有大量髓样小体（斑马小体），基底膜轻度不规则增厚。患者血浆中检测到的低α-半乳糖苷酶A活性支持法布里病的诊断，并通过在α-半乳糖苷酶A基因中检测到致病性纯合突变得以证实。因此，最终诊断为法布里病与1期膜性肾病并存。这是首例报道法布里病与膜性肾病并存的病例研究。我们的结果强调了电子显微镜检查在法布里病诊断中的重要性
