ArticleTransplantation2017
Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant.
Article in Transplantation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2020Guideline
- Access to kidney transplantation and re-transplantation from childhood to adulthood: long-term data from the ERA Registry.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Article
- Spectrum of Alport syndrome in an Indian cohort.Pediatric nephrology (Berlin, Germany) · 2025Article
- 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
- Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.Molecular genetics & genomic medicine · 2023Article
- Genetics of Chronic Kidney Disease in Low-Resource Settings.Seminars in nephrology · 2022Review
- Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.Molecular biology reports · 2021Article
- Genetic Disorders of the Glomerular Filtration Barrier.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Rare inherited kidney diseases: an evolving field in Nephrology.Jornal brasileiro de nefrologia · 2020Article
- Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI).Kidney international reports · 2020Article
- Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations.Frontiers in genetics · 2020Article
- Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.Molecular genetics and genomics : MGG · 2020Article
- The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome.Transplantation · 2017Article
- Epidemiology of Pediatric Nephrotic Syndrome: Real-World Data from Brazil.Glomerular diseasesArticle
- The APOL1 gene and kidney transplantation: a review article.Jornal brasileiro de nefrologiaReview
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aims of this study were to identify the genetic mutations profile in Brazilian children with nephrotic syndrome (NS) and to determine a genotype-phenotype correlation in this disease.
methodsNext-generation sequencing and mutation analysis were performed on 24 genes related to NS in a cross-sectional study involving 95 children who underwent kidney transplantation due to NS, excluding congenital cases.
resultsA total of 149 variants were identified in 22 of 24 sequenced genes. The mutations were classified as pathogenic, likely pathogenic, likely benign and benign per the chance of causing the disease. NPHS2 was the most common mutated gene. We identified 8 (8.4%) patients with hereditary NS and 5 (5%) patients with probably genetically caused NS. COL4A3-5 variants were found as well, but it is not clear whether they should be considered isolated FSGS or simply a misdiagnosed type of the Alport spectrum. Considering the clinical results, hereditary NS patients presented a tendency to early disease onset when compared with the other groups (P = 0.06) and time to end stage renal disease (ESRD) was longer in this group (P = 0.03). No patients from hereditary NS group had NS recurrence after transplantation.
conclusionsThis is the first study in children with steroid-resistant NS who underwent kidney transplantation using next-generation sequencing. Considering our results, we believe this study has shed some light to the uncertainties of genotype-phenotype correlation in NS, where several genes cooperate to produce or even to modify the course of the disease.
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