ArticleAnnals of Saudi medicine
Steroid-resistant nephrotic syndrome: impact of genetic testing.
Article in Annals of Saudi medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Biallelic pathogenic variants inJournal of medical genetics · 2026Article
- Clinical Decision-Making About Immunosuppressive Treatment in Focal Segmental Glomerulosclerosis.Kidney medicine · 2025Article
- Success of Coenzyme Q10 in Treating Steroid-Resistant Nephrotic Syndrome in Jordan: A Case Series.Cureus · 2025Article
- Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?Pediatric nephrology (Berlin, Germany) · 2023Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- 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
- Genetics of congenital and infantile nephrotic syndrome.World journal of pediatrics : WJP · 2019Article
- Review
- Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.Pediatric nephrology (Berlin, Germany) · 2014Article
- Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing.Annals of Saudi medicineArticle
- Re: steroid-resistant nephrotic syndrome: impact of genetic testing.Annals of Saudi medicineArticle
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesMutations in several genes are known to cause steroid-resistant nephrotic syndome (SRNS), most commonly in NPHS1, NPHS2, and WT1. Our aims were to determine the frequency of mutations in these genes in children with SRNS, the response of patients with SRNS to various immunosuppressants, and the disease outcome, and to review the predictive value of genetic testing and renal biopsy result. DESIGN AND SETTINGS: A retrospective review was performed of the medical records for all children with SRNS who were treated and followed-up in the Pediatric Nephrology Unit of King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia from 2002-2012. PATIENTS AND
methodsWe retrospectively reviewed the medical records of children above 1 year of age, who presented with SRNS to KAUH, Jeddah, Saudi Arabia, in the 10-year interval from 2002-2012 and for whom the results of genetic testing for NPHS1, NPHS2, and WT1 were available. We compared the clinical phenotype, including response to treatment and renal outcome to genotype data.
resultsWe identified 44 children with a clinical diagnosis of SRNS in whom results of genetic testing were available. Presumably disease-causing mutations were detected in 5 children (11.4%) of which 3 (6.8%) had NPHS2 mutation and 2 (4.5%) had NPHS1 mutation. Renal biopsy revealed minimal change disease (MCD) or variants in 17 children, focal segmental glomerulosclerosis (FSGS) in 23 children, membranoproliferative changes (MPGN) in 2 children, and IgA nephropathy in another 2 children. Children with MCD on biopsy were more likely to respond to treatment than those with FSGS. None of those with an identified genetic cause showed any response to treatment.
conclusionThe frequency of identified disease-causing mutations in children older than 1 year with SRNS presented to KAUH was 11.4%, and these patients showed no response to treatment. Initial testing for gene mutation in children with SRNS may obviate the need for biopsy, and the use of immunosuppressive treatment in children with disease due to NPHS1 or NPHS2 mutations. Renal biopsy was useful in predicting response in those without genetic mutations.
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