The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
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A Case of Hereditable Pulmonary Hypertension

유전성 폐동맥 고혈압 증례

  • Kim, Jin-Ho (Cardiology Division, Yonsei Cardiovascular Center and Cardiovascular Research Institute, Yonsei University College of Medicine) ;
  • Lee, Seung-Jun (Cardiology Division, Yonsei Cardiovascular Center and Cardiovascular Research Institute, Yonsei University College of Medicine) ;
  • Lee, Han-Cheol (Cardiology Division, Yonsei Cardiovascular Center and Cardiovascular Research Institute, Yonsei University College of Medicine) ;
  • Lee, Jin-Young (Cardiology Division, Yonsei Cardiovascular Center and Cardiovascular Research Institute, Yonsei University College of Medicine) ;
  • Lee, Young-Jae (Lee Gil Ya Cancer and Diabetes Institute, Gachon University) ;
  • Chung, Wook-Jin (Gachon University Gil Hospital, Gachon Cardiovascular Research Institue) ;
  • Chang, Hyuk-Jae (Cardiology Division, Yonsei Cardiovascular Center and Cardiovascular Research Institute, Yonsei University College of Medicine)
  • 김진호 (연세대학교 의과대학 내과학교실 세브란스 심장혈관병원 폐고혈압 클리닉) ;
  • 이승준 (연세대학교 의과대학 내과학교실 세브란스 심장혈관병원 폐고혈압 클리닉) ;
  • 이한철 (연세대학교 의과대학 내과학교실 세브란스 심장혈관병원 폐고혈압 클리닉) ;
  • 이진영 (연세대학교 의과대학 내과학교실 세브란스 심장혈관병원 폐고혈압 클리닉) ;
  • 이영재 (가천대학교 이길여 암.당뇨 연구원) ;
  • 정욱진 (가천대학교 의학전문대학원 길병원 심장내과, 가천대학교 심혈관연구소) ;
  • 장혁재 (연세대학교 의과대학 내과학교실 세브란스 심장혈관병원 폐고혈압 클리닉)
  • Published : 2012.10.01
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Abstract

Pulmonary arterial hypertension is a rare life-threatening disorder. Inherited cases of this disorder are known as heritable pulmonary arterial hypertension. Familial cases of heritable pulmonary arterial hypertension are caused by germline mutations of the bone morphogenetic protein receptor type 2 gene (BMPR), a type II receptor of the TGF-beta superfamily. This has not been reported in Korea. We report the first case of familial hereditable pulmonary arterial hypertension in Korea. The family has a mutation in exon12 of the BMPR2 gene (c.2695C > T, p.R899X).

폐 고혈압은 드물지만 매우 치명적인 질환으로, 그중 유전성 폐동맥 고혈압은 세대를 거쳐 특정 유전자의 돌연변이가 유전되어 발현되거나 가족력이 있는 경우이다. 저자들은 BMPR2 유전자 exon12 돌연변이에 의해 발현되는 유전성 폐동맥 고혈압 환자 가족 증례를 유전자 검사 및 문헌고찰과 함께 국내에서 처음 보고하는 바이며, 또한 증례의 남매 환자 및 그 가족들에 있어 임상경과 및 발병여부에 대한 향후 지속적인 추적관찰이 필요하다.

Keywords

References

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