Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation

Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation

BackgroundSteroid-resistant nephrotic syndrome (SRNS) is a rare kidney disease commonly characterized histopathologically by focal and segmental glomerulosclerosis (FSGS) or minimal change disease. One-third of SRNS-FSGS cases are attributed to a genetic cause ultimately leading to end-stage kidney...

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Bibliographic Details
Main Authors: Ignacio Alarcón, Carolina Peralta, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Francisco Cano, Angélica Rojo, María Luisa Ceballos, Paola Krall
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Nephrology
Subjects:
steroid-resistant nephrotic syndrome
variant of uncertain significance
ACTN4
pediatric kidney transplantation
focal and segmental glomerulosclerosis
recurrence risk
Online Access:https://www.frontiersin.org/articles/10.3389/fneph.2024.1375538/full
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https://www.frontiersin.org/articles/10.3389/fneph.2024.1375538/full

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