1例因纤维连接蛋白编码基因Y973C突变导致的纤维连接蛋白肾小球病

李超; 文煜冰; 李航; 李明喜; 李学旺; 李雪梅

doi:10.24920/31802

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1例因纤维连接蛋白编码基因Y973C突变导致的纤维连接蛋白肾小球病

Chinese Medicine Science Journal 2018年33卷第1期页码：60-63

案例报告 | Updated：2024-04-10

- 1例因纤维连接蛋白编码基因Y973C突变导致的纤维连接蛋白肾小球病
- Affiliations：
  
  中国医学科学院北京协和医学院,北京协和医院肾内科,100730 北京
- Author bio：
  
  * Corresponding author E-mail: lixmpumch@126.com
- Funds：
- DOI：10.24920/31802
  中图分类号：
- 收稿日期：2017-07-11，
  
  网络出版日期：2018-04-01，
  
  纸质出版日期：2018-04-01
- Accepted：
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李超, 文煜冰, 李航, 等. 1例因纤维连接蛋白编码基因Y973C突变导致的纤维连接蛋白肾小球病[J]. Chinese Medicine Science Journal, 2018,33(1):60-63.

Li Chao, Wen Yubing, Li Hang, et al. Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review[J]. Chinese medicine science journal, 2018, 33(1): 60-63.
李超, 文煜冰, 李航, 等. 1例因纤维连接蛋白编码基因Y973C突变导致的纤维连接蛋白肾小球病[J]. Chinese Medicine Science Journal, 2018,33(1):60-63. DOI： 10.24920/31802.

Li Chao, Wen Yubing, Li Hang, et al. Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review[J]. Chinese medicine science journal, 2018, 33(1): 60-63. DOI： 10.24920/31802.

摘要

纤维连接蛋白肾小球病是一种罕见的常染色体显性遗传的大量纤维连接蛋白沉积的肾小球病。我们诊断了1例纤维连接蛋白肾小球病的29岁女性患者

临床表现为肾病综合征。对纤维连接蛋白的编码基因FN1基因测序显示存在Y973C杂合突变

并且并未发现其父母携带此突变。随访一年后患者肾功能稳定

但肾病范围蛋白尿持续存在。

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.

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