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Pediatric Nephrology
Published in: Pediatric Nephrology 6/2020

01-06-2020 | Alport Syndrome | Review

Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis

Authors: Erol Demir, Yasar Caliskan

Published in: Pediatric Nephrology | Issue 6/2020

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Abstract

Focal 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.
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Metadata
Title
Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis
Authors
Erol Demir
Yasar Caliskan
Publication date
01-06-2020
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 6/2020
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-019-04282-y

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