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

• Główni autorzy: Ling Bai (Autor), Jing Zhuang (Autor), Changrong Zhang (Autor), Chen Lu (Autor), Xuefei Tian (Autor), Hong Jiang (Autor)
• Format: Książka
• Wydane: Frontiers Media S.A., 2021-09-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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...