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

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（英文）

作　　者：李超[1] 文煜冰[1] 李航[1] 李明喜[1] 李学旺[1] 李雪梅[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院肾内科

出　　处：《Chinese Medical Sciences Journal》2018年第1期60-63,共4页中国医学科学杂志（英文版）

摘　　要：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.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 Y973 C mutation. However, this mutation was not found in her parents. She had stable renal function but persistent nephrotic proteinuria after one-year follow-up.

关 键 词：FIBRONECTINS nephrotic SYNDROME MUTATION 

分 类 号：R[医药卫生]