The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
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A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation

BMPR2 유전자 돌연변이에 의한 특발성 폐동맥고혈압 1예

  • Kim, Sung-Min (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Koo, Eun-Hee (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Park, Sun-Mi (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Park, Ji-Won (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ki, Chang-Suk (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Young-Jae (Lee Gil Ya Cancer and Diabetes Institute, Gachon University of Medicine and Science) ;
  • Chang, Sung-A (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 김성민 (성균관대학교 의과대학 삼성서울병원 내과) ;
  • 구은희 (성균관대학교 의과대학 삼성서울병원 내과) ;
  • 박선미 (성균관대학교 의과대학 삼성서울병원 내과) ;
  • 박지원 (성균관대학교 의과대학 삼성서울병원 내과) ;
  • 기창석 (성균관대학교 의과대학 삼성서울병원 진단검사의학과) ;
  • 이영재 (가천의과학대학교 이길여 암당뇨연구소 길병원) ;
  • 장성아 (성균관대학교 의과대학 삼성서울병원 내과)
  • Published : 2012.08.01
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Abstract

Here, we describe the case of a 43-year-old male who was diagnosed with idiopathic pulmonary arterial hypertension and a mutation in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2). The subject presented with hemoptysis and dyspnea on exertion and was diagnosed with pulmonary arterial hypertension. Genetic analysis revealed a novel deletion (c.1042_1047delGTTATT) in exon 8 of BMPR2. To the best of our knowledge, this is the first reported case of a BMPR2 mutation in a Korean patient with pulmonary arterial hypertension.

본 증례는 국내에서 처음으로 밝혀진 BMPR2 유전자 돌연변이에 의한 폐동맥 고혈압일 뿐 아니라 전 세계적으로도 처음 발견된 exon 8의 c.1042_1047delGTTATT 돌연변이에 대한 보고이다. 환자는 NYHA class III 정도의 운동 시 호흡곤란 및 객혈로 내원한 43세 남자 환자로서 특발성 폐동맥 고혈압으로 확진되었다.

Keywords

References

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