ArticleClinical journal of the American Society of Nephrology : CJASN2011
Clinical utility of genetic testing in children and adults with 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 117 papers, 3 of them syntheses that pooled it.
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Who cites it
117 citing papers in PubMed, 3 syntheses or guidelines pooled it, 239 citations in OpenAlex.
- Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review.Pediatric nephrology (Berlin, Germany) · 2021Pooled it
- Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: medical therapy.Clinical and experimental nephrology · 2015Guideline
- 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
- Genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Review
- Treatment outcomes and ongoing pediatric trials in steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Review
- Review
- Reassessing the role of kidney biopsy in early idiopathic steroid-resistant nephrotic syndrome among children and young adults.Pediatric nephrology (Berlin, Germany) · 2026Article
- Broadening the Phenotypic Spectrum ofGenes · 2026Article
- Autoantibodies against nephrin and podocin are associated with disease severity and steroid dependence in adult-onset nephrotic syndrome.Scientific reports · 2026Article
- Machine Learning-Integrated Explainable Artificial Intelligence Approach for Predicting Steroid Resistance in Pediatric Nephrotic Syndrome: A Metabolomic Biomarker Discovery Study.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Review
- Advances in the pathophysiology and treatment of focal segmental glomerulosclerosis: The importance of a timely and tailored approach.World journal of nephrology · 2025Article
- Genetic aspects of pediatric nephrotic syndrome and anti-nephrin antibodies.Clinical and experimental nephrology · 2025Review
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Clinical Implementation of Nephrologist-Led Genomic Testing for Glomerular Diseases in Singapore: Rationale and Protocol.American journal of nephrology · 2025Article
- Pathogenesis of Focal Segmental Glomerulosclerosis and Related Disorders.Annual review of pathology · 2025Review
- Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.Kidney international reports · 2024Article
- New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.Pediatric nephrology (Berlin, Germany) · 2024Article
- A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic Associations.Kidney medicine · 2024Article
57 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesThe increasing number of podocyte-expressed genes implicated in steroid-resistant nephrotic syndrome (SRNS), the phenotypic variability, and the uncharacterized relative frequency of mutations in these genes in pediatric and adult patients with SRNS complicate their routine genetic analysis. Our aim was to compile the clinical and genetic data of eight podocyte genes analyzed in 110 cases (125 patients) with SRNS (ranging from congenital to adult onset) to provide a genetic testing approach. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Mutation analysis was performed by sequencing the NPHS1, NPHS2, TRPC6, CD2AP, PLCE1, INF2, WT1 (exons 8 and 9), and ACTN4 (exons 1 to 10) genes.
resultsWe identified causing mutations in 34% (37/110) of SRNS patients, representing 67% (16/24) familial and 25% (21/86) sporadic cases. Mutations were detected in 100% of congenital-onset, 57% of infantile-onset, 24 and 36% of early and late childhood-onset, 25% of adolescent-onset, and 14% of adult-onset patients. The most frequently mutated gene was NPHS1 in congenital onset and NPHS2 in the other groups. A partial remission was observed in 7 of 26 mutation carriers treated with immunosuppressive agents and/or angiotensin-converting enzyme inhibitors. Patients with NPHS1 mutations showed a faster progression to ESRD than patients with NPHS2 mutations. None of these mutation carriers relapsed after kidney transplantation.
conclusionsWe propose a genetic testing algorithm for SRNS based on the age at onset and the familial/sporadic status. Mutation analysis of specific podocyte-genes has a clinical value in all age groups, especially in children.
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