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

ABSTRACT:

Objectives

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 SGPL1 variants in one family, reviewed the relevant literature, and summarized their clinical phenotypes, pathological types, and genotypic characteristics.

Methods

Two cases of nephrotic syndrome caused by SGPL1 variants were admitted to Tongji Hospital, affiliated with Tongji Medical College of Huazhong University of Science and Technology. Their clinical data were retrospectively collected, and the peripheral blood genomic DNA was captured and sequenced by whole exome sequencing. Related literature pub

SUBMITTER: Yang S 

PROVIDER: S-EPMC9978203 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature