{"title":"一名 TRPC6 基因突变患者的塌陷性肾小球病表现为快速进展性肾小球肾炎：病例报告和文献综述。","authors":"Ibrahim Gokce, Mehtap Kaya, Neslihan Cicek, Sercin Guven, Yigit Ercetin, Nurdan Yildiz, Handan Kaya, Harika Alpay","doi":"10.4103/1319-2442.393999","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":21356,"journal":{"name":"Saudi Journal of Kidney Diseases and Transplantation","volume":"34 3","pages":"254-258"},"PeriodicalIF":0.5000,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature.\",\"authors\":\"Ibrahim Gokce, Mehtap Kaya, Neslihan Cicek, Sercin Guven, Yigit Ercetin, Nurdan Yildiz, Handan Kaya, Harika Alpay\",\"doi\":\"10.4103/1319-2442.393999\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":21356,\"journal\":{\"name\":\"Saudi Journal of Kidney Diseases and Transplantation\",\"volume\":\"34 3\",\"pages\":\"254-258\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2023-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Saudi Journal of Kidney Diseases and Transplantation\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/1319-2442.393999\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/17 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Saudi Journal of Kidney Diseases and Transplantation","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/1319-2442.393999","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/17 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
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 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.
期刊介绍：
Saudi Journal of Kidney Diseases and Transplantation (SJKDT, ISSN 1319-2442) is the official publication of the Saudi Center for Organ Transplantation, Riyadh, Saudi Arabia. It is published six times a year. SJKDT publishes peer-reviewed original research work and review papers related to kidney diseases, urinary tract, renal replacement therapies, and transplantation. The journal publishes original papers and reviews on cell therapy and islet transplantation, clinical transplantation, experimental transplantation, immunobiology and genomics and xenotransplantation related to the kidney. The journal also publishes short communications, case studies, letters to the editors, an annotated bibliography and a column on news and views.
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