Congenital Nephrotic Syndrome: Etiology, Clinical Presentation, and a Comparison of Optimal Treatment Strategies – A Literature Review
DOI:
https://doi.org/10.12775/QS.2026.78.76177Keywords
Congenital Nephrotic Syndrome, NPHS1 Gene, Nephrin, Glomerular Filtration Barrier, Bilateral Nephrectomy, Kidney Transplantation, Pediatric NephrologyAbstract
Introduction: Congenital nephrotic syndrome is a rare condition with symptom onset occurring within the first three months of life. It affects approximately 1 to 3 per 100,000 live births. It has a varied etiology on a genetic, non-genetic, and infectious basis. While management primarily relies on symptomatic care, advances in modern medicine have significantly improved long-term outcomes, slowly ensuring affected children normal functioning in the future.
Aim: The primary aim of this literature review is to synthesize current knowledge regarding the etiology and clinical presentation of CNS, and to compare the efficacy of evolving therapeutic methods, contrasting conservative medical management with radical surgical and renal replacement strategies.
Keywords: Congenital Nephrotic Syndrome; NPHS1 Gene; Nephrin; Glomerular Filtration Barrier; Bilateral Nephrectomy; Kidney Transplantation; Pediatric Nephrology.
Materials and methods: This study is a narrative literature review based on the analysis of scientific articles concerning congenital nephrotic syndrome (CNS). The reviewed studies included neonates and infants with CNS, focusing on genetic causes, medical and surgical management (nephrectomy), and kidney transplantation outcomes. Clinical guidelines, literature reviews, meta-analyse, cohort studies, and case reports published between 2001 and 2026 were analyzed.
Conclusions: Congenital nephrotic syndrome (CNS) lacks a universal treatment protocol, demanding a strictly personalized, multidisciplinary approach tailored to the unique clinical, metabolic, and genetic profile of each infant. Early prenatal detection is critical for planned delivery in tertiary centers and immediate postnatal stabilization. While contemporary management remains purely symptomatic and supportive, optimizing long-term outcomes requires expanded multicenter registries and a decisive shift in research toward causal, gene- and molecular-targeted therapies.
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