The Korean Journal of Medicine

  • 제79권2호
  • /
  • Pages.171-176
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  • 2010
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  • 1738-9364(pISSN)
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  • 2289-0769(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
권호 표지

가족성 위-식도 미만성 평활근종증을 보인 2대의 Alport 증후군

Familial diffuse gastroesophageal leiomyomatosis: A presentation in a mother and her son with Alport syndrome

  • 문송미 (경희대학교 의과대학 내과학교실) ;
  • 장영운 (경희대학교 의과대학 내과학교실) ;
  • 장재영 (경희대학교 의과대학 내과학교실) ;
  • 김윤화 (경희대학교 의과대학 병리학교실) ;
  • 김효종 (경희대학교 의과대학 내과학교실) ;
  • 김병호 (경희대학교 의과대학 내과학교실) ;
  • 장린 (경희대학교 의과대학 내과학교실)
  • Moon, Song-Mi (Department of Internal Medicine, Kyung Hee University College of Medicine) ;
  • Chang, Young-Woon (Department of Internal Medicine, Kyung Hee University College of Medicine) ;
  • Jang, Jae-Young (Department of Internal Medicine, Kyung Hee University College of Medicine) ;
  • Kim, Yoon-Wha (Department of Pathology, Kyung Hee University College of Medicine) ;
  • Kim, Hyo-Jong (Department of Internal Medicine, Kyung Hee University College of Medicine) ;
  • Kim, Byung-Ho (Department of Internal Medicine, Kyung Hee University College of Medicine) ;
  • Chang, Rin (Department of Internal Medicine, Kyung Hee University College of Medicine)
  • 투고 : 2009.08.11
  • 심사 : 2009.09.14
  • 발행 : 2010.08.01
⟨ 이전 논문 다음 논문 ⟩

초록

위-식도 미만성 평활근종증은 평활근세포의 비정상적 증식에 의해 위-식도벽이 매우 두꺼워지는 드문 양성의 질환으로, 산발성 혹은 상염색체, 성염색체 유전으로 발생한다. 특히 세대에 걸쳐 평활근종증이 나타나는 경우 Alport 증후군과 밀접한 유전적 연관성을 갖고 있음이 1983년 보고되었고, 이후 이에 대한 몇몇 증례들이 발표되었다. 저자들은 신기능 저하, 난청 및 선천성 백내장으로 Alport 증후군을 진단받고, 동반된 위-식도 미만성 평활근종증에 대한 수술적 절제를 시행 받은 남아의 어머니에게서 다른 증상의 동반없이 위-식도 및 성기의 미만성 평활근종증을 확인하고 수술적 치료를 시행한 증례를 경험하였다. 이는 Alport 증후군 보유자로 의심되는 여자가 자신의 남아에게 심각한 Alport 증후군을 유전시키고, 이와 함께 2대에 걸쳐 위-식도 미만성 평활근종증이 유전된 예로 아직까지 국내에 보고된 바 없기에 이를 보고하는 바이다.

Diffuse gastroesophageal leiomyomatosis is a rare, benign neoplastic condition characterized by thickening of the esophageal wall as a result ofaberrant smooth muscle proliferation. Gastroesophageal leiomyomatosis may occur in isolation or as a familial disorder and has been associated with other conditions, such as Alport syndrome. Alport syndrome is a hereditary disorder of basement membrane type IV collagen, characterized by progressive nephritis, sensorineural deafness and ocular abnormalities. In this article, we present an interesting case of gastroesophageal leiomyomatosis occurring in a single family in whichthe mother and her son had Alport syndrome. This case is the first report in Korea that gastroesophageal leiomyomatosis is associated with two generations of Alport syndrome.

키워드

참고문헌

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