Case report: Novel <i>ACTN4</i> variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation.

ABSTRACT:

Background

Steroid-resistant nephrotic syndrome (SRNS) is a rare kidney disease commonly characterized histopathologically by focal and segmental glomerulosclerosis (FSGS) or minimal change disease. One-third of SRNS-FSGS cases are attributed to a genetic cause ultimately leading to end-stage kidney disease (ESKD) during childhood or adulthood. ACTN4 variants, although rare, typically manifest in early adulthood as SRNS-FSGS with autosomal dominant inheritance pattern and are associated with variable progression toward ESKD.

Case–diagnosis/treatment

A 10-year-old Chilean male patient, born to a complicated pregnancy without any history of prenatal care, was incidentally found to have mild proteinuria during pre-surgery analysis. He was diagnosed with nephrotic syndrom

SUBMITTER: Alarcon I 

PROVIDER: S-EPMC11826236 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature