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Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature

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dc.contributor.authorGÖKCE, İBRAHİM
dc.contributor.authorKAYA, MİTHAT
dc.contributor.authorÇİÇEK DENİZ, NESLİHAN
dc.contributor.authorYILDIZ, NURDAN
dc.contributor.authorKAYA, HANDAN
dc.contributor.authorALPAY, HARİKA
dc.contributor.authorsGÖKCE İ., KAYA M., ÇİÇEK N., Guven S., Ercetin Y., YILDIZ N., KAYA H., ALPAY H.
dc.date.accessioned2024-06-05T15:37:46Z
dc.date.available2024-06-05T15:37:46Z
dc.date.issued2023-01-01
dc.description.abstractCollapsing 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.
dc.identifier.citationGÖKCE İ., KAYA M., ÇİÇEK N., Guven S., Ercetin Y., YILDIZ N., KAYA H., ALPAY H., "Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature", Saudi Journal of Kidney Diseases and Transplantation, cilt.34, sa.3, ss.254-258, 2023
dc.identifier.doi10.4103/1319-2442.393999
dc.identifier.endpage258
dc.identifier.issn1319-2442
dc.identifier.issue3
dc.identifier.startpage254
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85182956794&origin=inward
dc.identifier.urihttps://hdl.handle.net/11424/297004
dc.identifier.volume34
dc.language.isoeng
dc.relation.ispartofSaudi Journal of Kidney Diseases and Transplantation
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectNefroloji
dc.subjectSağlık Bilimleri
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectInternal Diseases
dc.subjectNephrology
dc.subjectHealth Sciences
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectÜROLOJİ VE NEFROLOJİ
dc.subjectTRANSPLANTASYON
dc.subjectClinical Medicine (MED)
dc.subjectCLINICAL MEDICINE
dc.subjectUROLOGY & NEPHROLOGY
dc.subjectTRANSPLANTATION
dc.subjectTransplantasyon
dc.subjectTransplantation
dc.titleCollapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature
dc.typearticle
dspace.entity.typePublication
local.avesis.id06443c0c-62ca-462e-bdbf-c6a53bbeb1ca
local.indexed.atPUBMED
local.indexed.atSCOPUS
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