Erschienen in:
01.10.2010 | Brief Report
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness
verfasst von:
Aditi Sinha, Sonika Sharma, Ashima Gulati, Alok Sharma, Sandeep Agarwala, Pankaj Hari, Arvind Bagga
Erschienen in:
Pediatric Nephrology
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Ausgabe 10/2010
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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.