Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature
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...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-01-01
|
| Series: | Saudi Journal of Kidney Diseases and Transplantation |
| Online Access: | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2023;volume=34;issue=3;spage=254;epage=258;aulast=Gokce |
| _version_ | 1797246008864800768 |
|---|---|
| author | Ibrahim Gokce Mehtap Kaya Neslihan Cicek Sercin Guven Yigit Ercetin Nurdan Yildiz Handan Kaya Harika Alpay |
| author_facet | Ibrahim Gokce Mehtap Kaya Neslihan Cicek Sercin Guven Yigit Ercetin Nurdan Yildiz Handan Kaya Harika Alpay |
| author_sort | Ibrahim Gokce |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T19:35:58Z |
| format | Article |
| id | doaj.art-013fec5c6d2b4fa2a2707d21fdfcca7f |
| institution | Directory Open Access Journal |
| issn | 1319-2442 |
| language | English |
| last_indexed | 2024-04-24T19:35:58Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Saudi Journal of Kidney Diseases and Transplantation |
| spelling | doaj.art-013fec5c6d2b4fa2a2707d21fdfcca7f2024-03-25T13:05:18ZengWolters Kluwer Medknow PublicationsSaudi Journal of Kidney Diseases and Transplantation1319-24422023-01-0134325425810.4103/1319-2442.393999Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the LiteratureIbrahim GokceMehtap KayaNeslihan CicekSercin GuvenYigit ErcetinNurdan YildizHandan KayaHarika AlpayCollapsing 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.http://www.sjkdt.org/article.asp?issn=1319-2442;year=2023;volume=34;issue=3;spage=254;epage=258;aulast=Gokce |
| spellingShingle | Ibrahim Gokce Mehtap Kaya Neslihan Cicek Sercin Guven Yigit Ercetin Nurdan Yildiz Handan Kaya Harika Alpay 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 |
| title | Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature |
| title_full | Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature |
| title_fullStr | Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature |
| title_full_unstemmed | Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature |
| title_short | Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature |
| title_sort | collapsing glomerulopathy in a patient with a trpc6 mutation presenting as rapidly progressive glomerulonephritis a case report and review of the literature |
| url | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2023;volume=34;issue=3;spage=254;epage=258;aulast=Gokce |
| work_keys_str_mv | AT ibrahimgokce collapsingglomerulopathyinapatientwithatrpc6mutationpresentingasrapidlyprogressiveglomerulonephritisacasereportandreviewoftheliterature AT mehtapkaya collapsingglomerulopathyinapatientwithatrpc6mutationpresentingasrapidlyprogressiveglomerulonephritisacasereportandreviewoftheliterature AT neslihancicek collapsingglomerulopathyinapatientwithatrpc6mutationpresentingasrapidlyprogressiveglomerulonephritisacasereportandreviewoftheliterature AT sercinguven collapsingglomerulopathyinapatientwithatrpc6mutationpresentingasrapidlyprogressiveglomerulonephritisacasereportandreviewoftheliterature AT yigitercetin collapsingglomerulopathyinapatientwithatrpc6mutationpresentingasrapidlyprogressiveglomerulonephritisacasereportandreviewoftheliterature AT nurdanyildiz collapsingglomerulopathyinapatientwithatrpc6mutationpresentingasrapidlyprogressiveglomerulonephritisacasereportandreviewoftheliterature AT handankaya collapsingglomerulopathyinapatientwithatrpc6mutationpresentingasrapidlyprogressiveglomerulonephritisacasereportandreviewoftheliterature AT harikaalpay collapsingglomerulopathyinapatientwithatrpc6mutationpresentingasrapidlyprogressiveglomerulonephritisacasereportandreviewoftheliterature |