Clinical and Experimental Pediatrics

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

윌름즈 종양, 무홍체증, 비뇨생식기계 기형, 정신지체 (WAGR) 증후군 : 양측성 윌름즈 종양을 성공적으로 치료한 국내 첫 증례 보고

  • 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)
  • 민경선 (전남대학교 의과대학 소아과학교실) ;
  • 백희조 (전남대학교 의과대학 소아과학교실) ;
  • 한동균 (전남대학교 의과대학 소아과학교실) ;
  • 유주희 (전남대학교 의과대학 소아과학교실) ;
  • 황태주 (전남대학교 의과대학 소아과학교실) ;
  • 권동득 (전남대학교 의과대학 비뇨기과학교실) ;
  • 국훈 (전남대학교 의과대학 소아과학교실)
  • Received : 2008.09.08
  • Accepted : 2008.10.14
  • Published : 2008.12.15
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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.

WAGR 증후군은 윌름즈 종양, 무홍채증, 비뇨 생식기계 기형, 정신지체 증상을 동반하는 증후군이다. 이는 윌름즈 종양 유전자인 WT1와 무홍채증 유전자 PAX6를 포함하는 11번 염색체 단완의 13째 부분의 결실에 의해 유발된다. 이에 저자들은 태어나서부터 양측성 무홍채증을 가졌고 복부팽만과 정신지체를 주소로 내원한 2세 여아에서 염색체 검사에서 11p11.2-13의 결실을 보인 국내 최초의 WAGR 증후군을 보고하는 바이다. 양측성 윌름즈 종양은 항암제와 수술로 성공적으로 치료하였고, 환아는 항암치료 종료 후 19개월째 정상적인 신기능을 보이며 생존하고 있다.

Keywords

References

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