【摘要】 目的 报道并探讨女性Fabry病的肾脏病理特点，并回顾分析有关文献报道。方法 对该有持续蛋白尿女性患者行肾活检，标本做电镜观察。结果 肾活检的超微结构显示肾小球上皮细胞胞浆中含有大量的板层小体。其为圆形，由同心的致密层组成。直径大约0.5～3μm.板层小体的板层间隔周期约4～5nm。结论 病理改变符合Fabry病的诊断。

    关键词 Fabry病 肾活检 电镜

    【Abstract】 Objective To report the renal pathology features of a female with Fabry’disease.Methods A37-year-old women presented with persistent proteinuria for wich renal biopywas performed.The specimen was obˉserved by Electron microscopy.Results Ultrastructural study of the renal biopsy demonstrated scattered epithelial cells within the glomeruli containing numerous laminated bodies.They are round and composed of concentric whorls of dense layers.The diameter is about0.5～3μm.The periodicity of the membrane structure of the lamellated bodies is estinated to be4～5nm.Conclusion the pathological findings of this case confirmed the existence of Fabry’s disˉease.The author also discussed the diagnosis of Fabry’s disease and reviewed the literatures reported in china.

    Key words Fabry’s disease renal biopy electron microscopy

    Fabry病又名Anderson-Fabry病 ......