Frasier Syndrome: A Rare Disorder in a Patient With Nephrotic Syndrome
Journal of Pediatric Nephrology,
Vol. 9 No. 1 (2021),
3 January 2021
https://doi.org/10.22037/jpn.v9i1.32422
Abstract
Frasier syndrome is a rare genetic disorder characterized by the association of progressive renal glomerulopathy, 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. Mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23 responsible for this syndrome. Patients with this syndrome commonly present with normal female genitalia, streak gonads, and 46, XY karyotyping. Nephropathy in Frasier syndrome conferred as a nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal and segmental glomerular sclerosis (FSGS). We herein discuss a 4 year-old-girl who presented as a steroid-resistant nephrotic syndrome and later on diagnosed as a Frasier syndrome.
- Keywords: Frasier syndrome, Nephrotic syndrome, Gonadal dysgenesis.
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References
1. Jiro Ezaki, Kazunori Hashimoto, Tatsuo Asano, and Noriyuki Shibata. GonadalTumorin Frasier Syndrome: a review and Classification. American Association for Cancer Research J 2015; DOI: 10.1158/1940-6207.CAPR-14-0415
2. Frasier S, Bashore ., Mosier .: Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediatr 1964;64:740-745.
3. Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, et al. A 46, XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. PLoS One. 2012;7:40858.
4. Koziell A, Grundy R. Frasier and Denys-Drash syndromes: different disorders or part of a spectrum: Arch Dis Child. 1999;81:365-9.
5. Anja Lehnhardt, Claartje Karnatz, Thurid Ahlenstiel-Grunow, Kerstin Benz. Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1. Clin J Am Soc Nephrol. 2015 May 7; 10(5): 825–831.
6. Vindhiya Kadambavana Sundaram*, Sundari Subramanian, Lakshmi Charan Chinumuthu, Aishwarya Dharmanathan. Frasier syndrome: A rare syndrome with WT-1 gene mutation.
Int J Contemp Pediatr. 2017 May;4(3):1101-1103.
7. Mara Sanches Guaragna , Anna Cristina, Gervásio de Britto Lutaif, Viviane Barros Bittencourt, Cristiane Santos Cruz Piveta. Frasier syndrome: four new cases with unusual presentations .
8. Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6(5):1139-48.
9. Aravind Selvin Kumar, R. Srilakshmi, S. M. K. Karthickeyan, K. Balakrishnan, and R. Padmaraj. Wilms’ tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome. Indian J Med Res. 2016 Aug; 144(2): 276–280.
doi: 10.4103/0971-5916.195044
10. Fujita S, Sugimoto K, Miyazawa T, Yanagida H, Tabata N, Okada M, et al. A female infant with Frasier syndrome showing splice site mutation in Wilms’ tumor gene (WT1) intron 9. Clin Nephrol. 2010;73:487–91. [PubMed] [Google Scholar.
11. Aditi Sinha, Pankaj Hari, Ashima Gulati, Arvind Bagga. Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. Pediatric Nephrology 2010; 25:,2171–2174.
12. Matuszczak Ewa, Debek Wojciech, Chomczyk Iwona. Frasier syndrome in 17-year old girl case report. Ginekol Pol. 2011, 82, 468-470.
13. Subbiah V, Huff V, Wolff JE, Ketonen L, Lang FF Jr, Stewart J. Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: a 46 XY phenotypic female with Frasier syndrome. Pediatr Blood Cancer 2009;53:1349–51.
14. . Shimoyama H, Nakajima M, Naka H, Park YD, Hori K, Morikawa H.
A girl with bilateral ovarian tumours: Frasier syndrome. Eur J Pediatr 2002;161:81–3.
15. Hashimoto K, Horibe YU, Ezaki J, Kanno T, Takahashi N, Akizawa Y, Matsui H, Yamamoto T, Shibata N. Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. Anticancer Res. 2017 Jul;37(7):3975-3979.
16. Kanagal DV, Prasad K, Rajesh A, Kumar RG, Cherian S, Shetty H. Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: a Case Report.
J Clin Diagn Res 2013;7:2021–2.
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