ArticleClinical journal of the American Society of Nephrology : CJASN2011
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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32 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 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
- Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing.Molecular genetics and metabolism reports · 2026Article
- Podocin oligomers regulate the ordering of nephrin chains, providing the molecular basis ofProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Comparison of three spot proteinuria measurements for pediatric nephrotic syndrome: based on the International pediatric Nephrology Association 2022 Guidelines.Renal failure · 2023Article
- Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.European journal of pediatrics · 2022Article
- 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
- Genetic tests in children with steroid-resistant nephrotic syndrome.Kidney research and clinical practice · 2020Review
- TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran.Molecular biology reports · 2019Article
- Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Pediatric nephrology (Berlin, Germany) · 2019Review
- The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.Communications biology · 2019Article
- Recurrent andFrontiers in immunology · 2019Review
- Molecular Mechanisms of Proteinuria in Focal Segmental Glomerulosclerosis.Frontiers in medicine · 2018Review
- Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.Clinical kidney journal · 2017Article
- 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
- WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.Molecular and cellular biochemistry · 2017Article
- R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome.International journal of nephrology · 2017Article
- Recurrence and Treatment after Renal Transplantation in Children with FSGS.BioMed research international · 2016Review
- Nephrology research--the past, present and future.Nature reviews. Nephrology · 2015Review
- Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.Clinical kidney journal · 2015Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesTo date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Mutation analysis was performed in 148 unrelated Spanish patients, of whom 50 presented with FSGS after 18 years of age. Pathogenicity of amino acid substitutions was evaluated through an in silico scoring system. Haplotype analysis was carried out using NPHS2 single nucleotide polymorphism and microsatellite markers.
resultsCompound heterozygous or homozygous NPHS2 pathogenic mutations were identified in seven childhood-onset steroid-resistant nephrotic syndrome (SRNS) cases. Six additional cases with late childhood- and adult-onset SRNS were compound heterozygotes for p.R229Q and one pathogenic mutation, mostly p.A284V. p.R229Q was more frequent among SRNS cases relative to controls (odds ratio=2.65; P=0.02). Significantly higher age at onset of the disease and slower progression to ESRD were found in patients with one pathogenic mutation plus the p.R229Q variant in respect to patients with two NPHS2 pathogenic mutations.
conclusionsNPHS2 analysis has a clinical value in both childhood- and adult-onset SRNS patients. For adult-onset patients, the first step should be screening for p.R229Q and, if positive, for p.A284V. These alleles are present in conserved haplotypes, suggesting a common origin for these substitutions. Patients carrying this specific NPHS2 allele combination did not respond to corticoids or immunosuppressors and showed FSGS, average 8-year progression to ESRD, and low risk for recurrence of FSGS after kidney transplant.
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