ArticleJournal of the American Society of Nephrology : JASN2015
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.
Article in Journal of the American Society of Nephrology : JASN, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 96 citations in OpenAlex.
- Antiproteinuric Effect of Sparsentan in Patients with Genetic-Associated FSGS Enrolled in the DUPLEX Trial.Clinical journal of the American Society of Nephrology : CJASN · 2026Trial
- Epigenetic mechanisms and steroid-resistant nephrotic syndrome: The future potential for SRNS diagnosis.iScience · 2026Review
- Review
- Precision medicine for focal segmental glomerulosclerosis.Kidney research and clinical practice · 2024Article
- Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome.Italian journal of pediatrics · 2024Article
- Genetic testing in focal segmental glomerulosclerosis: in whom and when?Clinical kidney journal · 2023Article
- Whole-exome sequencing of a multicenter cohort identifies genetic changes associated with clinical phenotypes in pediatric nephrotic syndrome.Genes & diseases · 2022Article
- Defining diagnostic trajectories in patients with podocytopathies.Clinical kidney journal · 2022Review
- Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.European journal of pediatrics · 2022Article
- 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
- The Evolving Role of Diagnostic Genomics in Kidney Transplantation.Kidney international reports · 2022Review
- Case report and literature review: AFrontiers in pediatrics · 2022Article
- Pediatric focal segmental glomerulosclerosis: favorable transplantation outcome with plasma exchange.Italian journal of pediatrics · 2021Observational
- Review
- Trends in pediatric nephrotic syndrome.World journal of nephrology · 2021Review
- A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.Internal medicine (Tokyo, Japan) · 2021Article
- Hypomethylation of NLRP3 gene promoter discriminates glucocorticoid-resistant from glucocorticoid-sensitive idiopathic nephrotic syndrome patients.Clinical and translational science · 2021Observational
- Podocyte Sphingolipid Signaling in Nephrotic Syndrome.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2021Review
- Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome.International journal of environmental research and public health · 2020Review
- Podocytopathies.Nature reviews. Disease primers · 2020Review
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In children, sporadic nephrotic syndrome can be related to a genetic cause, but to what extent genetic alterations associate with resistance to immunosuppression is unknown. In this study, we designed a custom array for next-generation sequencing analysis of 19 target genes, reported as possible causes of nephrotic syndrome, in a cohort of 31 children affected by sporadic steroid-resistant nephrotic syndrome and 38 patients who exhibited a similar but steroid-sensitive clinical phenotype. Patients who exhibited extrarenal symptoms, had a familial history of the disease or consanguinity, or had a congenital onset were excluded. We identified a genetic cause in 32.3% of the children with steroid-resistant disease but zero of 38 children with steroid-sensitive disease. Genetic alterations also associated with lack of response to immunosuppressive agents in children with steroid-resistant disease (0% of patients with alterations versus 57.9% of patients without alterations responded to immunosuppressive agents), whereas clinical features, age at onset, and pathologic findings were similar in steroid-resistant patients with and without alterations. These results suggest that heterogeneous genetic alterations in children with sporadic forms of nephrotic syndrome associate with resistance to steroids as well as immunosuppressive treatments. In these patients, a comprehensive screening using such an array may, thus, be useful for genetic counseling and may help clinical decision making in a fast and cost-efficient manner.
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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.