Early diagnosis and management of finish type congenital nephrotic syndrome in a 3-year-old child: A case report

Abstract

This study describes a 3-year-old non Finnish girl who was diagnosed with Finnish-type nephrotic syndrome (FTNS), a rare kidney illness brought on by NPHS1 gene abnormalities. Even though she had low protein levels and severe swelling when she was three months old, her case of congenital nephrotic syndrome (CNS) was incorrectly identified as minimal change disease (MCD). The standard MCD treatments, cyclosporine and steroids, did not affect her. A genetic test and a kidney sample confirmed the diagnosis of FTNS, a condition that necessitates an early renal transplant for survival. She is awaiting a kidney transplant and was treated with drugs that save proteins to lessen her edema. The study emphasizes the significance of FTNS early and correct diagnosis as well as the requirement for alternate treatments for this difficult illness.