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

• Main Authors: Ling Bai (Author), Jing Zhuang (Author), Changrong Zhang (Author), Chen Lu (Author), Xuefei Tian (Author), Hong Jiang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...