ArticlePediatric nephrology (Berlin, Germany)2008
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 4 of them syntheses that pooled it.
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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
24 citing papers in PubMed, 4 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Estimation of childhood nephrotic syndrome incidence: data from the atlanta metropolitan statistical area and meta-analysis of worldwide cases.Journal of nephrology · 2022Pooled it
- Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: medical therapy.Clinical and experimental nephrology · 2015Guideline
- Treatment of steroid-resistant nephrotic syndrome in children: new guidelines from KDIGO.Pediatric nephrology (Berlin, Germany) · 2013Guideline
- Estimation of the Age of the Kashubian-Specific PathogenicHuman mutation · 2024Article
- Clinical Characteristics, Pathological Features and Treatment Outcomes of Children With Nephrotic Syndrome at Princess Marina Hospital, Botswana.Global pediatric health · 2024Article
- Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.Molecular genetics and genomics : MGG · 2022Article
- Association BetweenFrontiers in medicine · 2022Article
- Etiology of Kidney Diseases With Proteinuria in the Gambia/West Africa.Frontiers in pediatrics · 2022Article
- High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.Frontiers in pediatrics · 2022Article
- Article
- Genetic Basis of Health Disparity in Childhood Nephrotic Syndrome.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018Review
- Screening of theFrontiers in genetics · 2018Article
- Proteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton Approach.Frontiers in medicine · 2018Review
- Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2017Article
- R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome.International journal of nephrology · 2017Article
- Ethnic Differences in Childhood Nephrotic Syndrome.Frontiers in pediatrics · 2016Review
- Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.Pediatric nephrology (Berlin, Germany) · 2015Review
- Chapter 4: Steroid-resistant nephrotic syndrome in children.Kidney international supplements · 2012Article
- Chapter 6: Idiopathic focal segmental glomerulosclerosis in adults.Kidney international supplements · 2012Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
In African American (AA) children, focal segmental glomerulosclerosis (FSGS) is the leading cause of nephrotic syndrome (NS). It has been shown that AA children suffer from FSGS and steroid-resistant nephrotic syndrome (SRNS) at a higher frequency and with a more severe renal outcome in comparison with Caucasian children. Previous mutation analysis of large cohorts revealed that a high percentage of childhood SRNS is monogenic and that mutations in podocin (NPHS2) and Wilms' tumor gene 1 (WT1) account for approximately 30% of SRNS in children. To test whether AA children with SRNS have a similar or a higher mutation rate, we performed mutation analysis of NPHS2 and WT1 in a cohort of AA children with SRNS. Direct sequencing was carried out for all exons of NPHS2 and for exons 8 and 9 of WT1. We ascertained 18 children of AA descent in whom renal biopsy findings showed FSGS in 13 patients (72%) and minimal-change disease in five patients (28%). In both NPHS2 and WT1, no disease-causing mutations were detected. Our data strongly suggest that in AA children with SRNS, the frequency of NPHS2 mutations is much lower than in large cohorts of pediatric SRNS patients in the general population. Knowledge of mutation rate of NPHS2 in different populations of SRNS patients facilitates the physician in planning a suitable genetic screening strategy for patients.
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Registered trials
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.