首页    期刊浏览 2024年11月28日 星期四
登录注册

文章基本信息

  • 标题:Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with bilateral Wilms' tumors in Korea
  • 本地全文:下载
  • 作者:Min, Kyung Sun ; Baek, Hee Jo ; Han, Dong Kyun
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2008
  • 卷号:51
  • 期号:12
  • 页码:1355-1358
  • DOI:10.3345/kjp.2008.51.12.1355
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms' tumor ( WT1 ) and aniridia gene ( PAX6 ) loci. Here, we report the first case of WAGR syndrome in Korea; the patient was a 2-year-old girl with bilateral aniridia from birth who presented with abdominal distention and mental retardation. Cytogenetically, she had deletion of chromosome 11p11.2-13. Bilateral Wilms' tumors were successfully treated by chemotherapy and surgery. She has been tumor-free for 19 months off chemotherapy with preserved renal function.

  • 关键词:WAGR syndrome; Wilms\' tumor; Aniridia
国家哲学社会科学文献中心版权所有