Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family

Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family

Background: Pathogenic variants in the NPHS2 gene encoding podocin in kidney podocytes are associated with autosomal recessive steroid-resistant nephrotic syndrome (SRNS) by disrupting podocyte function and the integrity of the glomerular filtration barrier. The outcome is generally poor by progress...

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Bibliographic Details
Main Authors: Ling Bai, Jing Zhuang, Changrong Zhang, Chen Lu, Xuefei Tian, Hong Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Pediatrics
Subjects:
steroid-resistant nephrotic syndrome
mutation
NPHS2
genetic testing
focal segmental glomerulosclerosis
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.692727/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.692727/full

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