Adult-onset female focal segmental glomerulosclerosis with nephrotic syndrome caused by a <i>TBC1D8B</i> variant: a case report.

ABSTRACT: We report the case of a 49-year-old Chinese woman with nephrotic syndrome, characterized by normal kidney function but poor response to hormonal and immunosuppressive therapy, indicative of steroid-resistant nephrotic syndrome. Through renal biopsy, the patient was diagnosed as havingfocal segmental glomerulosclerosis (perihilar type), and subsequent whole-exome sequencing identified a pathogenic frameshift variant concerning the TBC domain of the TBC1D8B gene. This patient represents the first late-onset Chinese female who was found to carry a novel, pathogenic variant in the gene TBC1D8B.

SUBMITTER: Hu X 

PROVIDER: S-EPMC11630739 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature