Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of hereditary hemorrhagic telangiectasia

유전성 출혈성 모세혈관 확장증 1례

  • Lee, Young Seung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Seonguk (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kang, Eun Kyeong (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Park, June Dong (Department of Pediatrics, Seoul National University College of Medicine)
  • 이영승 (서울대학교 의과대학 소아과학교실) ;
  • 김성국 (서울대학교 의과대학 소아과학교실) ;
  • 강은경 (서울대학교 의과대학 소아과학교실) ;
  • 박준동 (서울대학교 의과대학 소아과학교실)
  • Received : 2007.08.08
  • Accepted : 2007.09.11
  • Published : 2007.10.15
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Abstract

Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.

유전성 출혈성 모세혈관 확장증은 피부 점막 모세혈관확장증, 동정맥기형, 가족력을 3대 증상으로 하는 상염색체 우성 유전성 질환이다. 빈번한 코피가 가장 흔한 증상이며 폐, 뇌, 간 등에 동정맥기형이 동반될 수 있다. 저자들은 빈번한 코피, 폐와 뇌동정맥기형, 가족력을 가진 유전성 출혈성 모세혈관확장증 1례를 경험하고 이를 보고하는 바이다.

Keywords

References

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