Nephrotic syndrome in the first year of life

Sahay, Manisha; Gowrishankar, Swarnalatha; Narayen, Girish; Anuradha, .

doi:10.4103/2249-4855.104011

Cited by 3 publications

(1 citation statement)

References 8 publications

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“…About 90% of patients are steroid responsive and approximately one third of the remaining 10% do not respond to corticosteroids; the so called steroid resistant nephrotic syndrome (SRNS). It progresses to end-stage renal disease (ESRD) after about 10 years (2)(3)(4)(5)(6). It is well known that inherited structural defects of the glomerular filtration barrier are responsible for a large proportion of SRNS cases.…”

Section: Introductionmentioning

confidence: 99%

Genotypic and Phenotypic Features of Both NPHS1 and NPHS2 Genes in Infantile Nephrotic Syndrome and Prognostic Effect of E117K Polymorphism in NPHS1 Gene

et al. 2019

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Background: Infantile nephrotic syndrome (INS) refers to disease that is present after the first three months of life up to one year of age. There is genetic heterogeneity and genotype-phenotype correlation is not clear. Objectives:The focus of the present study was to analyze genotypic and phenotypic features of both NPHS1 and NPHS2 genes in INS. Methods: Clinical data, mutational analysis, histology, treatments, and outcomes of 48 children with NS are evaluated. A direct sequencing of NPHS1 gene and NPHS2 gene was performed. Patients were classified into 3 groups; group 1: cases having only NPHS1 mutation; group 2: cases with only NPHS2 mutation; group 3: cases without any mutation. Results:The mean age at onset of the disease was 8.7 ± 2.3 months, and mean follow-up time was 8.3 years. Seven familial and 41 sporadic cases of INS were found. Kidney biopsy was performed in 45 out of 48 patients and pathological investigations revealed focal segmental glomerulosclerosis in 29 (65%), IgM nephropathy in 6 (13%), and minimal change disease in 10 patients (22%). There were 5 (10.4%) cases in group 1 (patients having only mutations of NPHS1) and 13 cases (27%) in group 2 (patients having only mutations of NPHS2). Thirty cases (62.5%) had neither NPHS1 nor NPHS2 mutation (group 3). Conclusions: The genotypic and phenotypic features of INS were demonstrated. We found that INS with podocin mutation has poor prognosis according to exonal distribution. NPHS1 mutations caused a severe disease but with a more favorable prognosis.

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Section: Introductionmentioning

confidence: 99%

Genotypic and Phenotypic Features of Both NPHS1 and NPHS2 Genes in Infantile Nephrotic Syndrome and Prognostic Effect of E117K Polymorphism in NPHS1 Gene

et al. 2019

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Molecular docking and molecular dynamics simulation studies on PLCE1 encoded protein

Sahu

Pattanayak

2019

Journal of Molecular Structure

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

Sinha¹,

Vasudevan

Agarwal

et al. 2019

Nephron

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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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Nephrotic syndrome in the first year of life

Cited by 3 publications

References 8 publications

Genotypic and Phenotypic Features of Both NPHS1 and NPHS2 Genes in Infantile Nephrotic Syndrome and Prognostic Effect of E117K Polymorphism in NPHS1 Gene

Genotypic and Phenotypic Features of Both NPHS1 and NPHS2 Genes in Infantile Nephrotic Syndrome and Prognostic Effect of E117K Polymorphism in NPHS1 Gene

Molecular docking and molecular dynamics simulation studies on PLCE1 encoded protein

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

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