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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Detalles Bibliográficos
Autores principales: Bai, Ling, Zhuang, Jing, Zhang, Changrong, Lu, Chen, Tian, Xuefei, Jiang, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497038/
https://www.ncbi.nlm.nih.gov/pubmed/34631609
http://dx.doi.org/10.3389/fped.2021.692727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497038/
https://www.ncbi.nlm.nih.gov/pubmed/34631609
http://dx.doi.org/10.3389/fped.2021.692727

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