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Original Article
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Korean J Med. 2006;70(3):313-317.
- 증례 : 모자에서 발현된 가족성 일차성 폐동맥 고혈압 (Case Reports : A case of familial primary pulmonary hypertension)
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박정하, 김동수, 김두일, 이재익, 진한영, 김성만, 주영돈
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Jeong Ha Park, Dong Soo Kim, Doo Il Kim, Jae Ik Lee, Han Young Jin, Seong Man Kim, Young Don Joo
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서울의대 내과
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- Abstract
- 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
