Francis, Anna, Burke, John, Francis, Leo, McTaggart, Steven, and Mallett, Andrew (2016) Polypoid change of the glomerular basement membrane in a child with steroid resistant nephrotic syndrome and arhgap24 mutation: a case report. The Open Urology & Nephrology Journal, 9. pp. 88-93.

Preview

PDF (Published Version) - Published Version Available under License Creative Commons Attribution Non-commercial. Download (1MB) | Preview

Abstract

Background: Steroid resistant nephrotic syndrome (SRNS) is increasingly recognised to have a genetic basis following the identification of a number of mutations within genes encoding podocyte and basement membrane proteins. The ARHGAP24 gene product is a recently recognised important player in podocyte interaction with the glomerular basement membrane. The ARHGAP24 gene encodes a protein involved in regulating cell motility, membrane structure and polarity. Mutations in the gene have been shown in vitro to cause cell membrane ruffling.

Case Presentation: We report a novel missense mutation in exon 4 (c.[284G>A]; p.[Arg95Gln]) of the ARHGAP24 gene in a child that presented with SRNS at four years of age. Renal biopsy demonstrated unusual polypoid changes of the glomerular basement membrane (GBM).

Conclusion: We propose this novel ARHGAP24 mutation as causative for SRNS associated with unusual polypoid basement membrane changes. These biopsy findings, in association with ARHGAP24 mutation and clinical nephrotic syndrome are a novel finding. This finding may advance the understanding of ARHGAP24 gene product function.

Item ID:	67889
Item Type:	Article (Case Study)
ISSN:	1874-303X
Copyright Information:	© Francis et al.; Licensee Bentham Open. This is an open access article licensed under the terms of the Creative Commons Attribution-Non-Commercial 4.0 International Public License (CC BY-NC 4.0) (https://creativecommons.org/licenses/by-nc/4.0/legalcode), which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
Date Deposited:	01 Jul 2022 04:13
FoR Codes:	32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 100%
SEO Codes:	20 HEALTH > 2001 Clinical health > 200105 Treatment of human diseases and conditions @ 100%
Downloads:	Total: 71 Last 12 Months: 10
	More Statistics