ArticlePediatric nephrology (Berlin, Germany)2007
Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.International urology and nephrology · 2014Pooled it
- Mechanisms of Scarring in Focal Segmental Glomerulosclerosis.Kidney diseases (Basel, Switzerland) · 2021Review
- CG/CA genotypes represent novel markers in theJournal of genetics · 2020Article
- Mechanisms of Scarring in Focal Segmental Glomerulosclerosis.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2019Review
- Prevalence rates of histopathologic subtypes associated with steroid resistance in childhood nephrotic syndrome in Sub-Saharan Africa: a systematic review.International journal of nephrology and renovascular disease · 2019Article
- Molecular Mechanisms of Proteinuria in Focal Segmental Glomerulosclerosis.Frontiers in medicine · 2018Review
- Genetics of childhood steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2017Review
- Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Clinical and experimental nephrology · 2017Article
- Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.Journal of the American Society of Nephrology : JASN · 2016Article
- Practical Application of Columbia Classification for Focal Segmental Glomerulosclerosis.BioMed research international · 2016Review
- A circulating permeability factor in focal segmental glomerulosclerosis: the hunt continues.Clinical kidney journal · 2015Review
- Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era.Seminars in nephrology · 2015Review
- Causes and pathogenesis of focal segmental glomerulosclerosis.Nature reviews. Nephrology · 2015Review
- Genetic testing in nephrotic syndrome--challenges and opportunities.Nature reviews. Nephrology · 2013Review
- Recurrent focal segmental glomerulosclerosis: a discrete clinical entity.International journal of nephrology · 2012Article
- Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations.Pediatric nephrology (Berlin, Germany) · 2010Article
- NPHS2 variation in focal and segmental glomerulosclerosis.BMC nephrology · 2008Article
- Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2008Article
- Mechanisms of progression of chronic kidney disease.Pediatric nephrology (Berlin, Germany) · 2007Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Idiopathic nephrotic syndrome is a common pediatric kidney disease, 80% of all cases are steroid sensitive (SSNS). A significant proportion of children with SSNS will have a frequently relapsing or steroid-dependent course (FRNS/SDNS) that is associated with significant treatment-related morbidity. Mutations in NPHS2 account for more than 28% of all cases of steroid-resistant nephrotic syndrome (SRNS) and dominant mutations in WT1 for 5%; while mutations are absent from children with uncomplicated SSNS. Since FRNS/SDNS is phenotypically positioned within a spectrum between SSNS and SRNS, we hypothesized that heterozygous mutations of NPHS2 may be causing FRNS/SDNS. Mutational analysis of NPHS2 and WT1 was carried out in a single-center cohort of 20 children with FRNS/SDNS, ten children with uncomplicated SSNS (control), and 22 children with SRNS (control). Renal biopsy findings were available in 15/20 children with FRNS/SDNS and revealed IgM nephropathy, MCNS, and FSGS in six, five, and four children, respectively. Children with FRNS/SDNS were significantly younger at first presentation than those with SSNS and SRNS (median age: 3.0 years in FRNS/SDNS patients, 7.0 years in SSNS patients, and 5.0 in SRNS patients; p < 0.001). No NPHS2 or WT1 mutations were found in patients with FRNS/SDNS and uncomplicated SSNS. The hypothesis that FRNS/SDNS may be associated with heterozygous mutations in NPHS2 or WT1 was not confirmed.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.