Fabry病肾脏的超微病理研究

结合临床资料对4例Fabry病进行光镜、电镜观察与分析,探讨Fabry病肾脏的超微病理变化及电镜在其早期诊断中的作用。光镜观察显示肾小球有轻微或呈不同程度局灶节段硬化,在肾小球脏层细胞和肾小管上皮细胞胞质内可观察到数量不等的圆形空泡。这些空泡在半薄切片甲苯胺蓝染色后呈清晰的蓝染颗粒。电镜下可观察到一种特征性的嗜锇“斑马小体”或洋葱皮样小体。小体主要位于肾小球脏层细胞,也可出现在系膜细胞、肾小管上皮细胞、肾问质细胞以及血管内皮细胞和平滑肌细胞胞质内。早期病例只在部分肾小球脏层上皮细胞胞质内观察到嗜锇“斑马小体”。超微病理变化可反应疾病病变程度,特别是可为临床早期诊断提供重要的形态学依据。半薄切片甲苯胺蓝染色在Fabry病诊断中有一定价值。

Study of ultrastructural pathology of renal Fabry disease

The clinical and ultrastructural features of four cases of Fabry disease were investigated.The cytoplasm of glomerular epithelial cell and renal tubules epithelial cells was filled with vacuoles under light microscope and showed blue granules in toluidin blue-stained semithin sections.Under electron microscope,the "Zebra" or "onion skin" appearance of osmiophilic bodies occured in the cytoplasm of visceral and parietal epithelial cells,mesangial cells,renal tubules epithelial cells,interstitial cells as well as the endothilum and smooth muscle cell of the small blood vessels.Typical "zebra" like osmiophilic bodies are the characteristic ultrastrucural change of glomerulus visceral epithelial cells,especially in early stages of disease.Electron microscopy gave an important morphological evidence for early clinical diagnosis of Fabry disease.