Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness.
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.
Sinha
Aditi
A
Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Sharma
Sonika
S
Gulati
Ashima
A
Sharma
Alok
A
Agarwala
Sandeep
S
Hari
Pankaj
P
Bagga
Arvind
A
D002648:Child; D002675:Child, Preschool; D016572:Cyclosporine / Q000627:therapeutic use*; D005260:Female; D052159:Frasier Syndrome / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D016162:Genes, Wilms Tumor; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics; D018238:Gonadoblastoma / Q000235:genetics*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics
D007166:Immunosuppressive Agents; D016572:Cyclosporine