ArticlePediatric nephrology (Berlin, Germany)2017
Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy.
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 25 papers.
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Who cites it
25 citing papers in PubMed, 42 citations in OpenAlex.
- FamilialWorld journal of nephrology · 2026Article
- Advances in SRNS Gene Research: From Precision Classification to Precision Diagnosis and Treatment.Biomedicines · 2026Review
- Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation.CEN case reports · 2026Article
- Kidney transplantation outcomes in children with WT1-associated kidney disease: a single-center cohort study.Frontiers in pediatrics · 2026Article
- Differences in kidney prognosis between congenital and infantile nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance.Children (Basel, Switzerland) · 2025Article
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Case Report: a novel variant inFrontiers in nephrology · 2025Article
- Congenital Diaphragmatic Hernia and Congenital Nephrotic Syndrome in a Low-Birth-Weight Infant: A Case Report.Case reports in pediatrics · 2025Article
- Inter-Ethnic Variations in the Clinical, Pathological, and Molecular Characteristics of Wilms Tumor.Cancers · 2024Review
- WT1-related disorders: more than Denys-Drash syndrome.Pediatric nephrology (Berlin, Germany) · 2024Review
- Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure.Pediatric nephrology (Berlin, Germany) · 2024Article
- Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review.BMC pediatrics · 2022Review
- Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.Pediatric nephrology (Berlin, Germany) · 2022Article
- Amenorrhea in a pediatric kidney transplant recipient: Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Spectrum of Clinical Manifestations in Children WithFrontiers in pediatrics · 2022Article
- Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome.Kidney international reports · 2021Article
- Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.European journal of human genetics : EJHG · 2020Article
- Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.Journal of clinical medicine · 2020Article
- Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (Proceedings of the National Academy of Sciences of the United States of America · 2020Article
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Authors and funding
11 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations.
methodsFrom 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9 %). The patients were grouped into missense (n = 11) and KTS splicing (n = 10) mutation groups.
resultsNine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. Progression to end-stage renal disease (ESRD) was noted in all patients with missense mutations (median age, 2.6 months; interquartile range [IQR], 0.8 months to 1.7 years) and in 5 patients with KTS splicing mutations (median, 9.3 years; IQR, 3.3-16.5 years). Disorders of sexual development (DSDs) were noted in all 12 patients with a 46, XY karyotype and in only 1 of the 8 patients with a 46, XX karyotype. One patient developed a Wilms tumor and another developed gonadoblastoma. Three patients had a diaphragmatic defect or hernia.
conclusionsWT1 mutations manifest as a wide spectrum of renal and extra-renal phenotypes. Genetic diagnosis is essential for overall management and to predict the genotype-specific risk of DSDs and the development of malignancies.
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