Fechtner综合征肾脏病理特点及机制探讨

目的 研究Fechtner综合征先证者肾脏病改变特点并探讨其发病机制。 方法 采用HE染色、免疫组化、免疫荧光和电镜等方法对Fechtner综合征患者的肾活检组织进行研究。 结果 免疫组化结果显示在足细胞和远曲小管上皮，非肌性肌球蛋白重链IIA（NMMHC-IIA）有高表达，近曲小管刷状缘有微弱表达。与正常肾组织相比，患者NMMHC-IIA在硬化的肾小球足细胞的表达减少。免疫荧光结果提示患者肾小球有明显的NMMHC-IIA沉积；足细胞特异性抗体标记结果显示NMMHC-IIA主要沉积在患者的足细胞；电镜显示足突部分融合并伴微绒毛形成。 结论 突变的NMMHC-IIA沉积在肾小球足细胞，足突部分融合伴微绒毛形成影响了足细胞的功能,导致了Fechtner综合征肾脏病变的发生。

Pathogenesis of renal lesion in Fechtner syndrome

Objective To investigate the pathogenesis of renal lesion in Fechtner syndrome . Methods Pathological characteristics of kidney tissues from Fechtner syndrome patients were explored by HE staining, immunochemistry, immunofluorescence and electron microscopy . Results Immunochemistry analysis showed that non-muscle myosin heavy chain IIA (NMMHC-IIA)was expressed in podocytes of giomeruli and distal convoluted tube, and was faintly expressed in the brush border of proximal tube . Histological examination demonstrated glomerulosclerosis and decreased expression of NMMHC-IIA in abnormal podocytes . Through standard immunofluorecence, the expression of NMMHC-IIA in patient's podocyte was higher than that in normal pedocytes . The fusion of foot process and microvillus were detected by electron microscopy . Conclusion Abnormal NMMHC-IIA aggregates in the glomeruli podocyts and foot process fusion accompanied with appearance of microvillus leads to renal lesion in Fechtuer syndrome .