ArticlePediatric nephrology (Berlin, Germany)2017
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 3 of them syntheses that pooled it.
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Who cites it
79 citing papers in PubMed, 3 syntheses or guidelines pooled it, 108 citations in OpenAlex.
- COQ2-Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Pooled it
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.Nature reviews. Nephrology · 2021Guideline
- Effect of Huaiqihuang Granules Combined with Comprehensive Nursing on Children with Primary Nephrotic Syndrome.Journal of healthcare engineering · 2022Trial
- Genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Epigenetic mechanisms and steroid-resistant nephrotic syndrome: The future potential for SRNS diagnosis.iScience · 2026Review
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical Presentation, Genetic Testing, and Outcome of Congenital Nephrotic Syndrome in KwaZulu-Natal, South Africa.Nephron · 2026Article
- Exploring genotype-phenotype correlation in nucleoporin nephropathy.Pediatric research · 2025Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Effective calcineurin inhibitor treatment in adult-onset steroid-resistant nephrotic syndrome with a novel splice donor site variant of TRPC6: a case report.CEN case reports · 2025Article
- Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.Journal of the American Society of Nephrology : JASN · 2025Article
- In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.Pediatric nephrology (Berlin, Germany) · 2024Article
- Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.Kidney international reports · 2024Article
- The emerging role of clinical genetics in pediatric patients with chronic kidney disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- Monogenic Causes Identified in 23.68% of Children with Steroid-Resistant Nephrotic Syndrome: A Single-Centre Study.Kidney diseases (Basel, Switzerland) · 2024Article
- Clinical follow-up of 2 families with glomerulopathy caused byFrontiers in pediatrics · 2024Article
- Genetic testing in focal segmental glomerulosclerosis: in whom and when?Clinical kidney journal · 2023Article
- Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation inKidney international reports · 2023Article
19 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundThe aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity.
methodsUsing high-throughput DNA sequencing, 28 nephrotic syndrome-related genes were analyzed in 110 chil-dren affected by SRNS and 10 children with isolated proteinuria enrolled by 5 centers in China (67 boys, 53 girls). Their age at disease onset ranged from 1 day to 208 months (median, 48.8 months). Patients were excluded if their age at onset of disease was over 18 years or if they were diagnosed as having Alport syndrome.
resultsA genetic etiology was identified in 28.3% of our cohort and the likelihood of establishing a genetic diagnosis decreased as the age at onset of nephrotic syndrome increased. The most common mutated genes were ADCK4 (6.67%), NPHS1 (5.83%), WT1 (5.83%), and NPHS2 (3.33%), and the difference in the frequencies of ADCK4 and NPHS2 mutations between this study and a study on monogenic causes of SRNS in the largest international cohort of 1,783 different families was significant. A case of congenital nephrotic syndrome was attributed to a homozygous missense mutation in ADCK4, and a de novo missense mutation in TRPC6 was detected in a case of infantile nephrotic syndrome.
conclusionsOur results showed that, in the first and the largest multicenter cohort of Chinese pediatric SRNS reported to date, ADCK4 is the most common causative gene, whereas there is a low prevalence of NPHS2 mutations. Our data indicated that the genetic testing results for pediatric SRNS patients vary with different ethnicities, and this information will help to improve management of the disease in clinical practice.
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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.