Unveiling Challenges in Pediatric Nephrology: A Closer Look at Congenital Nephrotic Syndrome in India
In the realm of pediatric nephrology, Congenital Nephrotic Syndrome (CNS) poses unique challenges, especially in developing countries like India. A recent groundbreaking multicenter study conducted across 12 pediatric nephrology centers from 2012 to 2017 has provided invaluable insights into the epidemiology, diagnosis, and treatment outcomes of CNS in this setting.
Patient Profiles: The study focused on 65 children, shedding light on their demographics and medical history. Surprisingly, nearly half of the cohort were preterm, with a significant number having a history of fetal loss or sibling death (22%), emphasizing the complex nature of these cases.
Etiological Mysteries: One intriguing aspect is the absence of a confirmed infective etiology. Genetic evaluations, available for 23% of the children, unveiled causal mutations in genes like NPHS1, WT1, and PLCE-1, sparking further questions about the genetic underpinnings of CNS.
Genetic Landscape: The study delved into the realm of genetics, employing next-generation sequencing and Sanger sequencing. The results indicated an 80% yield for next-gen sequencing, underscoring the potential of advanced genetic analysis in understanding the intricacies of CNS.
Treatment Dilemmas: The initial treatment approaches revealed a mixed landscape. Albumin infusion and angiotensin-converting enzyme inhibitors were commonly used, while the utilization of indomethacin was surprisingly low at 12%. These findings prompt a closer examination of treatment protocols and their impact on patient outcomes.
Follow-up Challenges and Outcomes: The study uncovered a significant challenge in follow-up, with 34% of children lost to subsequent visits. Among those who continued follow-up, the median duration was 69 days. The outcomes were sobering, with a 42% mortality rate. Notably, responders to treatment showed significantly better survival rates compared to nonresponders, raising important questions about the effectiveness of current therapeutic strategies.
Conclusion and Future Perspectives: This comprehensive series on CNS in India highlights suboptimal management and outcomes, emphasizing the urgent need for improved diagnostic and therapeutic strategies. The low percentage of cases