ArticleJournal of medical genetics2017
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
What it found
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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
45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2020Guideline
- Rapidly progressive steroid-resistant focal segmental glomerulosclerosis associated with an INF2 exon 6 variant.CEN case reports · 2026Article
- Advances in SRNS Gene Research: From Precision Classification to Precision Diagnosis and Treatment.Biomedicines · 2026Review
- The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.International journal of molecular sciences · 2026Article
- Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Relationship between clinical and pathologic findings and the presence of genetic variants in patients with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Review
- Spectrum of Alport syndrome in an Indian cohort.Pediatric nephrology (Berlin, Germany) · 2025Article
- Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome - a population-based analysis of their significance.Scientific reports · 2024Article
- Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome.Italian journal of pediatrics · 2024Article
- Monogenic Causes Identified in 23.68% of Children with Steroid-Resistant Nephrotic Syndrome: A Single-Centre Study.Kidney diseases (Basel, Switzerland) · 2024Article
- Explaining Alport syndrome-lessons from the adult nephrology clinic.Journal of rare diseases (Berlin, Germany) · 2024Review
- Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome - implications for resource-constrained settings.Pediatric nephrology (Berlin, Germany) · 2023Article
- The Phenotypic Spectrum ofKidney international reports · 2023Article
- Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation inKidney international reports · 2023Article
- Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?Pediatric nephrology (Berlin, Germany) · 2023Article
- Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.Biomolecules & biomedicine · 2023Article
- Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.Scientific reports · 2023Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThere are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ability to identify copy number variants (CNVs).
methodsThis study reports results of 302 patients referred for SRNS diagnostic gene panel analysis. Phenotype and clinical impact data were collected using a standard proforma. Candidate variants detected by NGS were confirmed by Sanger sequencing/Multiplex Ligation-dependent Probe Amplification with subsequent family segregation analysis where possible.
resultsClinical presentation was nephrotic syndrome in 267 patients and suspected Alport syndrome (AS) in 35. NGS panel testing determined a likely genetic cause of disease in 44/220 (20.0%) paediatric and 10/47 (21.3%) adult nephrotic cases, and 17/35 (48.6%) of haematuria/AS patients. Of 71 patients with genetic disease, 32 had novel pathogenic variants without a previous disease association including two with deletions of one or more exons of
conclusionGene panel testing provides a genetic diagnosis in a significant number of patients presenting with SRNS or suspected AS. It should be undertaken at an early stage of the care pathway and include the ability to detect CNVs as an emerging mechanism for genes associated with this condition. Use of clinical genetic testing after diagnosis of SRNS has the potential to stratify patients and assist decision-making regarding management.
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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.