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

<b><i>Background:</i></b> There is a paucity of information on epidemiology, diagnosis, and treatment outcomes of congenital nephrotic syndrome (CNS) in developing countries. <b><i>Methods:</i></b> Retrospective (2012–2017) review of case records undertaken across 12 Indian pediatric nephrology centers. <b><i>Results:</i></b> 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, <i>p</i> = 0.004. <b><i>Conclusion:</i></b> 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.

**背景**：发展中国家关于先天性肾病综合征（congenital nephrotic syndrome, CNS）的流行病学、诊断及治疗转归的相关研究资料仍较为匮乏。**方法**：本研究为2012—2017年开展的回顾性病例档案回顾分析，覆盖印度12家儿童肾脏病中心。**结果**：本研究共纳入65例确诊为先天性肾病综合征的儿童，其中男性占58%，出生体重中位数为2.4 kg [四分位间距（interquartile range, IQR）2.1~2.86 kg]。近半数（45%）患儿为早产，22%的患儿存在胎儿丢失或同胞死亡史，1/3的患儿有近亲婚配史。未检出明确感染性病因。对15例（23%）患儿进行基因检测，其中10例检出致病突变：8例见于*NPHS1*基因（含1个新发变异）、1例见于*WT1*基因（含1个新发变异）、1例见于*PLCE-1*基因。另有1例患儿临床诊断为加洛韦-莫瓦特综合征（Galloway Mowat syndrome）。新一代测序（next-generation sequencing, NGS）的检测阳性率为80%，Sanger测序阳性率为20%。约2/3的研究对象初始治疗采用白蛋白输注联合血管紧张素转换酶抑制剂，仅12%的患儿使用了吲哚美辛。共有22例（34%）患儿在初次就诊后失访，剩余患者的随访中位数为69天（IQR 20~180天），其中18例（42%）死亡。8例患儿治疗后达到部分缓解（其中2例为*NPHS1*基因复合突变），1例达到完全缓解，此类缓解患儿在末次随访时均存活；与之相比，无应答患儿的死亡率达53%，组间差异具有统计学意义（*p*=0.004）。**结论**：本研究作为印度目前已报道的规模最大的先天性肾病综合征队列研究，结果显示临床诊疗质量欠佳、患儿预后不佳，且接受基因评估的先天性肾病综合征患儿比例较低。