Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature.
Journal
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
ISSN: 1319-2442
Titre abrégé: Saudi J Kidney Dis Transpl
Pays: Saudi Arabia
ID NLM: 9436968
Informations de publication
Date de publication:
01 May 2023
01 May 2023
Historique:
medline:
17
1
2024
pubmed:
17
1
2024
entrez:
17
1
2024
Statut:
ppublish
Résumé
Collapsing glomerulopathy (CG) is a proliferative disease characterized by segmental or global wrinkling of the glomerular basement membrane and the formation of pseudocrescents, whereas focal segmental glomerulosclerosis (FSGS) is characterized by podocytopenia, and focal and segmental sclerosis of the glomeruli. Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients. The mutations p.R895C and p.R895L in Exon 13 are the only ones in TRPC6 causing CG reported to date. Here, we present the case of a 17-year-old male patient with a collapsing variant of familial FSGS caused by a mutation in TRPC6 (p.R895C) who presented with rapidly progressive (crescentic) and proliferative glomerulonephritis.
Identifiants
pubmed: 38231721
doi: 10.4103/1319-2442.393999
pii: 00936703-202334030-00008
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
254-258Informations de copyright
Copyright © 2024 Copyright: © 2024 Saudi Journal of Kidney Diseases and Transplantation.
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