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Supplementary Material for: Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series

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posted on 2019-10-25, 08:39 authored by Sinha R., Vasudevan A., Agarwal I., Sethi S.K., Saha A., Pradhan S., Ekambaram S., Thaker N., Matnani M., Banerjee S., Sharma J., Singhal J., Ashraf S., Mandal K.
Background: There is a paucity of information on epidemiology, diagnosis, and treatment outcomes of congenital nephrotic syndrome (CNS) in developing countries. Methods: Retrospective (2012–2017) review of case records undertaken across 12 Indian pediatric nephrology centers. Results: Sixty-five children (58% male, median birth weight 2.4 kg [interquartile range (IQR) 2.1–2.86]) were identified with CNS. Nearly half (45%) were preterm with previous history of fetal loss/sibling death in 22% and history of consanguinity in a third. No infective etiology was confirmed. Genetic reports available for 15 (23%) children identified causal mutations in 10 (8 in NPHS1 [1 novel variant], 1 in WT 1 [novel variant], and 1 in PLCE-1 gene). In addition, 1 child was clinically diagnosed as Galloway Mowat syndrome. Next-generation sequencing showed 80% yield and Sanger sequencing 20%. Albumin infusion and angiotensin-converting enzyme inhibitors were used initially in around two-third of cohort, while only 12% of children received indomethacin. Totally, 22 (34%) children were lost to follow-up after initial visit, and among the rest median follow-up was 69 days (IQR 20–180) with 18 (42%) deaths. Eight children showed partial response (including 2 with NPHS1 compound mutation), 1 complete response, and all of them were alive at last follow-up in contrast to 53% mortality among nonresponders, p = 0.004. Conclusion: This largest reported series on CNS from India revealed suboptimal management with poor outcome as well as low number of CNS being subjected to genetic evaluation.

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