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

Authors :
Chao Li
Mingxi Li
Xuemei Li
Xuewang Li
Hang Li
Yubing Wen
Source :
cmsj. 33:60-63
Publication Year :
2018
Publisher :
Chinese Medical Sciences Journal, 2018.

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.

Details

ISSN :
10019294
Volume :
33
Database :
OpenAIRE
Journal :
cmsj
Accession number :
edsair.doi.dedup.....abe4b1eb684501890345745a36e4bcfb
Full Text :
https://doi.org/10.24920/31802