Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease

Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease

BackgroundFocal segmental glomerulosclerosis (FSGS) is a histopathological diagnosis of the sclerosis of glomeruli and the damage to renal podocytes. FSGS affects the filtration function of the kidneys and results in nephrotic syndrome (NS) in children and adults. FSGS is a clinically and geneticall...

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Bibliographic Details
Main Authors: Zhechi He, Ke Wu, Wenqing Xie, Jianghua Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Pediatrics
Subjects:
focal segmental glomerulosclerosis
end-stage renal disease
proteinuria
ACTN4
de novo
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.930258/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.930258/full

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