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http://dx.doi.org/10.3345/kjp.2008.51.12.1355

Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with bilateral Wilms' tumors in Korea  

Min, Kyung Sun (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School)
Baek, Hee Jo (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School)
Han, Dong Kyun (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School)
You, Ju Hee (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School)
Hwang, Tai Ju (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School)
Kwon, Dong Deuk (Department of Urology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School)
Kook, Hoon (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School)
Publication Information
Clinical and Experimental Pediatrics / v.51, no.12, 2008 , pp. 1355-1358 More about this Journal
Abstract
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.
Keywords
WAGR syndrome; Wilms' tumor; Aniridia;
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