초록 열기/닫기 버튼
최근 들어 PPH의 유전적 요인과 분자 생물학적인 요인들이 보고되고 있는데, 저자들은 국내에서 거의 보고 된 적이 없는 모계유전이 의심되는 FPPH를 경험하였기에 문헌고찰과 함께 보고하는 바이며, 이 가계에 대한 지속적인 추적관찰과 유전적 결함 유무 확인은 모자의 사망과 후손이 없는 관계로 불가능하였다.
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)
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)
키워드열기/닫기 버튼
Pulmonary hypertension, Primary, Familial
