ArticlePediatric nephrology (Berlin, Germany)2010
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness.
Article in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- The CaPediatric nephrology (Berlin, Germany) · 2025Review
- A novel variant leads to WT1-related nephrotic syndrome and differences of sex development: a case report.Frontiers in pediatrics · 2025Article
- Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy.Children (Basel, Switzerland) · 2023Article
- A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.CEN case reports · 2022Article
- Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome.Kidney international reports · 2021Article
- Frasier Syndrome: A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome.Children (Basel, Switzerland) · 2021Article
- Long-term outcome in a case series of Denys-Drash syndrome.Clinical kidney journal · 2019Article
- Ovarian neoplasms of childhood.Pediatric radiology · 2019Review
- Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome.The Indian journal of medical research · 2016Article
- Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2014Article
- Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.European journal of pediatrics · 2011Article
- The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.European journal of pediatrics · 2011Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Frasier syndrome is characterized by progressive glomerulopathy that is unresponsive to corticosteroids, male pseudohermaphroditism, and an increased risk of genitourinary tumors. Of 21 girls with steroid-resistant nephrotic syndrome secondary to focal segmental glomerulosclerosis (FSGS) who were screened for mutations in the WT1 gene, two showed Frasier syndrome. Both patients had donor splice-site mutations in intron 9 of the WT1 gene and a male karyotype (46, XY). Long-term therapy with cyclosporine resulted in partial remission in both cases. One patient showed foci of gonadoblastoma in the excised dysgenetic gonads. This report highlights the need for screening for mutations in the WT1 gene in girls with steroid-resistant FSGS. Patients with Frasier syndrome might benefit from early gonadectomy.
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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.