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

Publication date: March 2018Source: Chinese Medical Sciences Journal, Volume 33, Issue 1Author(s): Chao Li, Yubing Wen, Hang Li, Mingxi Li, Xuewang Li, Xuemei LiAbstractFibronectin 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.
Source: Chinese Medical Sciences Journal - Category: General Medicine Source Type: research