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The Korean Journal of Medicine 2006;70(3): 313-317.
증례 : 모자에서 발현된 가족성 일차성 폐동맥 고혈압 (Case Reports : A case of familial primary pulmonary hypertension)
박정하, 김동수, 김두일, 이재익, 진한영, 김성만, 주영돈
Jeong Ha Park, Dong Soo Kim, Doo Il Kim, Jae Ik Lee, Han Young Jin, Seong Man Kim, Young Don Joo
서울의대 내과
Primary Pulmonary Hypertension (PPH) predominantly affects women frequently in the prime of life and usually leads to death from right ventricular failure within a few years after diagnosis. The prevalence and etiology of familial PPH are uncertain. The age of onset is variable and penetrance is incomplete. Although its occurrence in families was reported within a few years after the original clinical report, PPH was formely believed rarely to have a gene basis. Recent progress has not only clarified a basic molecular mechanism for PPH in familise, but also identified mutations of the same gene in many sporadic PPH patients, suggestion that its basis is commonly genetic. We report a case of familial PPH in a 20-year-old male with exetional dyspnea, who has a family history of PPH in his mother. We report this case with a brief review of recent literatures.(Korean J Med 70:313-317, 2006) Key Worlds : Pulmonary hypertension, Primary, Familial
Keywords: Pulmonary hypertension, Primary, Familial
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