A case of familial glomerulopathy with fibronectin deposits caused by the Y973C mutation in fibronectin.

Abstract

Glomerulopathy with fibronectin deposits is a rare hereditary kidney disease characterized by the extensive deposition of fibronectin in glomeruli, particularly in mesangial regions and subendothelial zones. Prognostically, the disease is known as slowly progressive, leading to kidney failure in most cases. We recently diagnosed glomerulopathy with fibronectin deposits in a 24-year-old man in whom proteinuria was detected incidentally. Genetic analysis of the fibronectin 1 (FN1) gene showed heterozygosity for the Y973C mutation. The same mutation was found in his elder brother, who similarly experienced proteinuria. Both patients had normal kidney function but persistent proteinuria after 30 months and 11 years of follow-up, respectively.

• Authors: Dilek Ertoy Baydar, Aysun Aybal Kutlugun, Elena Bresin, Rossella Piras
• Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation (Am J Kidney Dis) Vol. 61 Issue 3 Pg. 514-8 (Mar 2013) ISSN: 1523-6838 [Electronic] United States
• PMID: 23219110 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Chemical References

• Fibronectins

Topics

• Adolescent
• Fibronectins (genetics)
• Glomerulonephritis, Membranoproliferative (genetics)
• Humans
• Male
• Mutation
• Pedigree
• Young Adult