RESEARCH ARTICLE


Polypoid Change of the Glomerular Basement Membrane in a Child with Steroid Resistant Nephrotic Syndrome and ARHGAP24 Mutation: A Case Report



Anna Francis*, 1, 2, John Burke1, 2, Leo Francis3, Steven McTaggart1, 2, Andrew Mallett2, 4
1 Department of Paediatric Nephrology, Lady Cilento Children’s Hospital, Brisbane, Australia
2 University of Queensland, Brisbane, Australia
3 Department of Anatomical Pathology, Royal Brisbane and Women’s Hospital, Brisbane, Australia
4 Department of Renal Medicine, Royal Brisbane and Women’s Hospital, Brisbane, Australia


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© Francis et al.; Licensee Bentham Open

open-access license: 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.

Correspondence: Address correspondence to this author at the Department Paediatric Nephrology, Lady Cliento Children’s Hospital, P.O. Box 3474, South Brisbane, QLD 4101, Australia; Fax: +61730684079; Email: Anna.Francis@health.qld.gov.au


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.

Keywords: ARHGAP24, Glomerular asement membrane, Mutation, Nephrotic syndrome, Renal biopsy.