| Wilms` tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with
bilateral Wilms` tumors in Korea |
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Kyung Sun Min1, Hee Jo Baek1, Dong Kyun Han1, Ju Hee You1, Tai Ju Hwang1, Dong Deuk Kwon2, Hoon Kook1 |
1Departments of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea
2Departments of Urology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea |
| 윌름즈 종양, 무홍체증, 비뇨생식기계 기형, 정신지체 (WAGR) 증후군 : 양측성 윌름즈 종양을 성공적으로 치료한 국내 첫 증례 보고 |
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민경선1, 백희조1, 한동균1, 유주희1, 황태주1, 권동득2, 국 훈1 |
1전남대학교 의과대학 소아과학교실
2전남대학교 의과대학 비뇨기과학교실 |
Correspondence:
Hoon Kook, Email: hoonkook@chonnam.ac.kr
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| Abstract |
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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. |
| Key Words:
WAGR syndrome, Wilms` tumor, Aniridia |
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