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A case of familial primary pulmonary hypertension / 대한내과학회지
Korean Journal of Medicine ; : 313-317, 2006.
Artículo en Coreano | WPRIM | ID: wpr-17055
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.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Prevalencia / Genes vif / Edad de Inicio / Penetrancia / Diagnóstico / Disnea / Hipertensión Pulmonar / Madres Tipo de estudio: Estudio diagnóstico / Estudio de prevalencia / Estudio pronóstico Límite: Femenino / Humanos / Masculino Idioma: Coreano Revista: Korean Journal of Medicine Año: 2006 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Prevalencia / Genes vif / Edad de Inicio / Penetrancia / Diagnóstico / Disnea / Hipertensión Pulmonar / Madres Tipo de estudio: Estudio diagnóstico / Estudio de prevalencia / Estudio pronóstico Límite: Femenino / Humanos / Masculino Idioma: Coreano Revista: Korean Journal of Medicine Año: 2006 Tipo del documento: Artículo