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纤连蛋白Y973C突变导致的纤连蛋白肾小球病:一例报告及文献综述

Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review.

作者信息

Li Chao, Wen Yu-Bing, Li Hang, Li Ming-Xi, Li Xue-Wang, Li Xue-Mei

机构信息

Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.

出版信息

Chin Med Sci J. 2018 Mar 30;33(1):60-63. doi: 10.24920/31802.

Abstract

Fibronectin glomerulopathy is a rare autosomal dominant inherited glomerular disease associated with massive deposition of fibronectin. We recently diagnosed fibronectin glomerulopathy in a 29-year-old woman presenting nephrotic syndrome. Genetic analysis of fibronectin 1 gene showed heterozygosity for the Y973C mutation. However, this mutation was not found in her parents. She had stable renal function but persistent nephrotic proteinuria after one-year follow-up.

摘要

纤连蛋白肾小球病是一种罕见的常染色体显性遗传性肾小球疾病,与纤连蛋白的大量沉积有关。我们最近诊断出一名患有肾病综合征的29岁女性患有纤连蛋白肾小球病。对纤连蛋白1基因的遗传分析显示Y973C突变的杂合性。然而,在她的父母中未发现这种突变。经过一年的随访,她的肾功能稳定,但肾病性蛋白尿持续存在。

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