Polypoid change of the glomerular basement membrane in a child with steroid resistant nephrotic syndrome and arhgap24 mutation: a case report
Journal Contribution ResearchOnline@JCUAbstract
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.
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Publication Name
The Open Urology & Nephrology Journal
Volume
9
ISBN/ISSN
1874-303X
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Pages Count
6
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Publisher
Bentham Open
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EISSN
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DOI
10.2174/1874303X01609010088