Preterm Finnish-type congenital nephrotic syndrome (NPHS1 variant) with multisystem involvement and TORCH coinfection

This report describes a preterm male neonate who presented in his second month of life with seizures, anasarca and severe hypoalbuminaemia. Laboratory evaluation revealed heavy proteinuria, electrolyte disturbances and microbiological seropositivity (cytomegalovirus, herpes simplex virus, rubella), while urine culture isolated Klebsiella. Whole-exome sequencing confirmed a homozygous NPHS1 variant consistent with Finnish-type congenital nephrotic syndrome. The infant required mechanical ventilation, inotropic support, daily albumin infusions, antiviral therapy and intensive electrolyte correction during his neonatal intensive care course. Gradual stabilisation allowed discharge on oral therapy and nutritional supplementation, with continued weight gain and appropriate neurodevelopment during follow-up. This case is unique for its preterm onset, multiple congenital infections and early neurological involvement. It highlights the importance of considering genetic nephrotic syndromes in neonatal multisystem illness, early integration of genetic testing and infectious screening and the role of multidisciplinary care in optimising outcomes.