Congenital Nephrotic Syndrome of the Finnish Type in a Dominican Newborn: An Overview and Case Report

Abstract

Congenital nephrotic syndrome of the Finnish type (CNS-FT) is a rare genetic condition that causes massive proteinuria, hypoproteinemia, hypercholesterolemia, and edema that progresses to end-stage renal disease. Symptoms may manifest in utero as fetal hydrops or during the first few days to months of life. This article shares the case of a Dominican infant who presented with CNS-FT. It provides a comprehensive overview of CNS-FT including the underlying genetic cause, prenatal and postnatal diagnostic testing options, and treatment recommendations. It walks the reader through the diagnostic and initial and longer-term management of this infant and provides patient outcome at 10 months of age.

Keywords: Finnish congenital nephrosis; Finnish type; NPHSl; congenital; congenital nephrotic syndrome; genetics; nephrosis; renal.