Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.

Abstract

Nephrotic syndrome (NS) is the most common chronic glomerular disorder in pediatric populations, yet its manifestation during the neonatal or infantile period often portends a severe, treatment-resistant monogenic form. While recent studies reveal marked heterogeneity in the clinical course and severity of congenital and infantile NS, critical gaps remain in understanding its underlying mechanisms. This review synthesizes current evidence on the genetic landscape of the early-onset NS, highlighting how advances in next-generation sequencing and molecular diagnostics have refined genotype-phenotype correlations. We discuss how these insights are reshaping disease classification, enabling early prognostic stratification, and informing personalized management strategies. Emphasis is placed on the transformative role of genetic testing in guiding clinical care and uncovering novel therapeutic avenues for this complex pediatric kidney disorder.