Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review

• Published in: Frontiers in pediatrics Vol. 11; p. 1079758
• Main Authors: Yang, Siying, He, Yonghua, Zhou, Jianhua, Yuan, Huiqing, Qiu, Liru
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 16.02.2023
• Subjects: clinical phenotype; genotype; Pediatrics; proteinuria; SGPL1 gene mutation; steroid-resistant nephrotic syndrome; steroid-resistant nephrotic syndrome; SGPL1 gene mutation; proteinuria; clinical phenotype; genotype

Steroid-resistant nephrotic syndrome (SRNS) is a clinical syndrome characterized by the lack of response to standard steroid therapy, usually progressing to end-stage renal disease. We reported two cases of female identical twins with SRNS caused by variants in one family, reviewed the relevant lite...