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Fechtner综合征肾脏病理特点及机制探讨

Pathogenesis of renal lesion in Fechtner syndrome
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摘要 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。 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 glomeruli 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 podocytes. 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 Fechtner syndrome.
作者 杨海燕 王兆钺 卢国元 赵小娟 张志刚 郭慕依 白霞 阮长耿
机构地区 苏州大学附属第一医院江苏省血液研究所 卫生部血栓与止血重点实验室 复旦大学医学院病理学系
出处 《中华肾脏病杂志》 CAS CSCD 北大核心 2008年第5期328-331,共4页 Chinese Journal of Nephrology
基金 江苏省重点学科135开放课题（135XY0602）
关键词 非肌肌球蛋白IIA型 突变 足细胞 Fechtner综合征 基因 MYH9 Nonmuscle myosin type IIA Mutation Podocytes Fechtnersyndrome Gene,MYH9
分类号 R692 [医药卫生—泌尿科学]
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参考文献12

  • 1Moxey-Mims MM, Young G, Silverman A, et al. End stage renal disease in two pediatric patients with Fechtner syndrome. Pediatr Nephrol, 1999,13:782-786.
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二级参考文献20

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中华肾脏病杂志
2008年 第5期

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