Tuberculosis and Respiratory Diseases

The Korean Academy of Tuberculosis and Respiratory Diseases (대한결핵및호흡기학회)
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A Case of Type Ia Glycogen Storage Disease Associated with Pulmonary Hypertension

폐고혈압증을 동반한 제 Ia형 당원병 1예

  • Kim, Eun-Kyung (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Internal Medicine Medical Genetics Laboratory,Asan Medical Center, University of Ulsan College of Medicine) ;
  • JaeGal, Yang-Jin (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Jun, Byung-Min (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Hong, Sang-Bum (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Shim, Tae-Sun (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lim, Chae-Man (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Koh, Youn-Suck (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Woo-Sung (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Dong-Soon (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Won-Dong (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Sang-Do (Division of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine)
  • 김은경 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 유한욱 (울산대학교 의과대학 서울중앙병원 의학 유전학 클리닉) ;
  • 제갈양진 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 전병민 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 홍상범 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 심태선 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 임채만 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 고윤석 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 김우성 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 김동순 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 김원동 (울산대학교 의과대학 서울중앙병원 내과학 교실) ;
  • 이상도 (울산대학교 의과대학 서울중앙병원 내과학 교실)
  • Published : 2000.06.30
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Abstract

A glycogen storage disease(GSD) type I is a metabolic disease caused by a deficiency in one of the components of the glucose-6-phosphatase(G-6-Pase) system. This disorder results in hypoglycemia, hepatomegaly, lactic acidemia, hyperlipidemia, and hyperuricemia. Comon long(-)term complications include growth retaradation, gout, hepatic adenomas, osteoporosis and renal disease. However the cardiovascular system is rarely involved, and only six cases of pulmonary hypertension associated with GSD I have been reported in the literature. We experienced a case of pulmonary hypertension with type I GSD. A 31-year-old rnan, who had discovered type I GSD and received portocaval shunt operation 22 years ago, was admitted to the hospital with the chief complaint of dyspnea. Echocardiographic examination and cardiac catheterization revealed severe pulmonary hypertension. Nitric oxide and oral prostacycline derivative(beraprost) were tried without acute favorable response. After one year with beraprost, dyspnea, exercise capacity and hemodynamic parameters were improved. We report this case with a review of the literature.

제 I 형 당원병에서 폐고혈압은 드문 합병증으로 외국 문헌에서 6예만이 보고되었으나 국내에는 아직 보고된 바가 없다. 저자들은 최근 제 Ia형 당원병으로 진단 받았던 31세 남자 환자에서 폐고혈압이 동반되었던 예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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