| Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. | |
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MedLine Citation:
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PMID: 20419325 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Aditi Sinha; Sonika Sharma; Ashima Gulati; Alok Sharma; Sandeep Agarwala; Pankaj Hari; Arvind Bagga |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-04-24 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 25 ISSN: 1432-198X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-08-19 Completed Date: 2010-12-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 2171-4 Citation Subset: IM |
Affiliation:
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Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Cyclosporine / therapeutic use* Female Frasier Syndrome / complications*, drug therapy*, genetics Genes, Wilms Tumor Glomerulosclerosis, Focal Segmental / genetics Gonadoblastoma / genetics* Humans Immunosuppressive Agents / therapeutic use* Male Mutation Nephrotic Syndrome / genetics |
| Chemical | |
Reg. No./Substance:
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0/Immunosuppressive Agents; 59865-13-3/Cyclosporine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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