ReviewPediatric nephrology (Berlin, Germany)2019
Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?
Review in Pediatric nephrology (Berlin, Germany), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
70 citing papers in PubMed, 2 syntheses or guidelines pooled it, 144 citations in OpenAlex.
- Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review.Pediatric nephrology (Berlin, Germany) · 2021Pooled it
- IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2020Guideline
- Review
- Genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical impact of genetic testing in inherited kidney diseases.Clinical kidney journal · 2026Article
- Epigenetic mechanisms and steroid-resistant nephrotic syndrome: The future potential for SRNS diagnosis.iScience · 2026Review
- Advances in SRNS Gene Research: From Precision Classification to Precision Diagnosis and Treatment.Biomedicines · 2026Review
- Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Molecular mechanisms in podocytopathies: finding suitable targets for a new era of glomerular gene therapy.Clinical kidney journal · 2026Review
- Machine Learning-Integrated Explainable Artificial Intelligence Approach for Predicting Steroid Resistance in Pediatric Nephrotic Syndrome: A Metabolomic Biomarker Discovery Study.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Patterns of Glomerular Injury: Histopathological Classification and Clinical Correlation.Cureus · 2025Review
- Association between SIRT-1 and SERPINA4 gene polymorphisms and the risk of idiopathic nephrotic syndrome among Egyptian children.Molecular biology reports · 2025Article
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Cytochrome P450 3A gene family and medication in childhood nephrotic syndrome: An update.Global medical genetics · 2025Review
- Nucleoporin-associated steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Review
- A review of the genetic background in complicated WT1-related disorders.Clinical and experimental nephrology · 2025Review
- Roles of myosin 1e and the actin cytoskeleton in kidney functions and familial kidney disease.Cytoskeleton (Hoboken, N.J.) · 2024Review
- Clinical characteristics and prognosis of steroid-resistant nephrotic syndrome in children: a multi-center retrospective study.Italian journal of pediatrics · 2024Article
- Precision medicine for focal segmental glomerulosclerosis.Kidney research and clinical practice · 2024Article
- Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome - a population-based analysis of their significance.Scientific reports · 2024Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease in childhood and has a significant risk of rapid progression to end-stage renal disease. The identification of over 50 monogenic causes of SRNS has revealed dysfunction in podocyte-associated proteins in the pathogenesis of proteinuria, highlighting their essential role in glomerular function. Recent technological advances in high-throughput sequencing have enabled indication-driven genetic panel testing for patients with SRNS. The availability of genetic testing, combined with the significant phenotypic variability of monogenic SRNS, poses unique challenges for clinicians when directing genetic testing. This highlights the need for clear clinical guidelines that provide a systematic approach for mutational screening in SRNS. The likelihood of identifying a causative mutation is inversely related to age at disease onset and is increased with a positive family history or the presence of extra-renal manifestations. An unequivocal molecular diagnosis could allow for a personalised treatment approach with weaning of immunosuppressive therapy, avoidance of renal biopsy and provision of accurate, well-informed genetic counselling. Identification of novel causative mutations will continue to unravel the pathogenic mechanisms of glomerular disease and provide new insights into podocyte biology and glomerular function.
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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.