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

Author: Chao LI ¹ ; Yu-Bing WEN ¹ ; Hang LI ¹ ; Ming-Xi LI ¹ ; Xue-Wang LI ¹ ; Xue-Mei LI ¹
Author Information

1. Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Publication Type:Journal Article
From: Chinese Medical Sciences Journal 2018;33(1):60-63
CountryChina
Language:English
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.