ArticlePediatric nephrology (Berlin, Germany)2015
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 3 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.Nature reviews. Nephrology · 2021Guideline
- A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness.Medicine · 2017Pooled it
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Review
- Nephrectomy for congenital nephrotic syndrome: unanswered questions.Pediatric nephrology (Berlin, Germany) · 2025Article
- Differences in kidney prognosis between congenital and infantile nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?Pediatric nephrology (Berlin, Germany) · 2025Article
- New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.Pediatric nephrology (Berlin, Germany) · 2024Article
- Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation inKidney international reports · 2023Article
- LAMB2 novel variant c.2885-9 C>A affects RNA splicing in a minigene assay.Molecular genetics & genomic medicine · 2021Article
- Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.European journal of human genetics : EJHG · 2020Article
- Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.Scientific reports · 2020Article
- A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.BMC medical genetics · 2019Article
- Monogenic Causes of Proteinuria in Children.Frontiers in medicine · 2018Review
- Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.Kidney international · 2016Article
- Renal failure from birth-AKI or CKD? Answers.Pediatric nephrology (Berlin, Germany) · 2016Article
- The etiology of congenital nephrotic syndrome: current status and challenges.World journal of pediatrics : WJP · 2016Review
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) are caused primarily by mutations in genes that encode structural and regulatory proteins of the glomerular filtration barrier. The aim of this study was to determine genotype-phenotype correlations and prognosis in patients with CNS and INS.
methodsNPHS1, NPHS2, LAMB2 and the eighth and ninth exons of WT1 were sequenced in 80 and 22 patients with CNS and INS, respectively. Genotype-phenotype correlations and survival were evaluated.
resultsCausative mutations were identified in 64.7 % of patients, of which NPHS1 mutations were the most common (37.4 %). The mutation detection rate was twofold higher in CNS patients than in INS patients (72.5 vs. 36.2 %). The most commonly mutated gene in CNS patients was NPHS1 (46.3 %) versus NPHS2 (13.6 %) and WT1 (13.6 %) in INS patients. NPHS2 mutations, female patients with NPHS1 mutations, and NPHS1 mutations affecting the transmembrane or intracellular domains of nephrin were associated with longer survival.
conclusionsBased on our present findings, the likelihood of identification of a genetic cause decreases with increasing age at diagnosis. The underlying genetic abnormality should be identified as early as possible, as this knowledge will facilitate clinicians in their prognostic prediction and enable patients to receive appropriate genetic counseling.
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