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dc.contributor.authorDemir, Erol
dc.contributor.authorCaliskan, Yasar
dc.date.accessioned2021-03-05T18:49:05Z
dc.date.available2021-03-05T18:49:05Z
dc.date.issued2020
dc.identifier.citationDemir E., Caliskan Y., "Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis", PEDIATRIC NEPHROLOGY, cilt.35, ss.927-936, 2020
dc.identifier.issn0931-041X
dc.identifier.otherav_cc375ae9-6bdb-4630-ae36-cb08acb5178c
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/135221
dc.identifier.urihttps://doi.org/10.1007/s00467-019-04282-y
dc.description.abstractFocal segmental glomerulosclerosis (FSGS), an important cause of end-stage kidney disease (ESKD), covers a spectrum of clinicopathological syndromes sharing a common glomerular lesion, based on an injury of podocytes caused by diverse insults to glomeruli. Although it is well expressed in many reports that the term FSGS is not useful and applicable to a single disease, particularly in genetic studies, FSGS continues to be used as a single clinical diagnosis. Distinguishing genetic forms of FSGS is important for the treatment and overall prognosis because secondary forms of FSGS, produced by rare pathogenic variations in podocyte genes, are not good candidates for immunosuppressive treatment. Over the past decade, several next generation sequencing (NGS) methods have been used to investigate the patients with steroid resistance nephrotic syndrome (SRNS) or FSGS. Pathogenic variants in COL4A3, COL4A4, or COL4A5 genes have been frequently identified in patients with histologic diagnosis of FSGS. The contribution of these mostly heterozygous genetic variations in FSGS pathogenesis and the clinical course of patients with these variations have not been well characterized. This review emphasizes the importance of appropriate approach in selection and diagnosis of cases and interpretation of the genetic data in these studies and suggests a detailed review of existing clinical variant databases using newly available population genetic data.
dc.language.isoeng
dc.subjectİç Hastalıkları
dc.subjectNefroloji
dc.subjectSağlık Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectÜROLOJİ VE NEFROLOJİ
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectPEDİATRİ
dc.titleVariations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis
dc.typeMakale
dc.relation.journalPEDIATRIC NEPHROLOGY
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , İç Hastalıkları Anabilim Dalı Nefroloji Bilim Dalı
dc.identifier.volume35
dc.identifier.issue6
dc.identifier.startpage927
dc.identifier.endpage936
dc.contributor.firstauthorID2282157


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