Rich S, Hart K
Department of Medicine, University of Illinois College of Medicine, Chicago 60680.
Chest. 1991 May;99(5):1208-10. doi: 10.1378/chest.99.5.1208.
A kindred with a familial hemoglobinopathy and familial primary pulmonary hypertension with autosomal dominant transmission has been identified. Affected family members were obvious from their cyanosis due to a reduced affinity for oxygen by the hemoglobin variant. The mother and one child had clinical pulmonary hypertension, whereas two siblings had cyanosis and preclinical pulmonary vascular disease as evidenced by abnormal perfusion lung scans and elevated levels of fibrinopeptide A in the face of normal pulmonary hemodynamics. In one, pulmonary hypertension could be induced with exercise. The studies on this family support the hypothesis that primary pulmonary hypertension may be initiated by abnormalities of the pulmonary vascular bed that predispose to in situ thrombosis. The possible common genetic transmission of the two diseases offers the speculation that the gene that confers predisposition to pulmonary hypertension may be located near the gene responsible for beta globulin.
已鉴定出一个具有家族性血红蛋白病和常染色体显性遗传的家族性原发性肺动脉高压的家族。由于血红蛋白变异体对氧的亲和力降低，受影响的家庭成员因发绀而很明显。母亲和一个孩子患有临床肺动脉高压，而两个兄弟姐妹有发绀和临床前肺血管疾病，这可通过灌注肺扫描异常和纤维蛋白肽A水平升高来证明，尽管肺血流动力学正常。其中一人运动时可诱发肺动脉高压。对这个家族的研究支持这样一种假说，即原发性肺动脉高压可能由易发生原位血栓形成的肺血管床异常引发。这两种疾病可能的共同遗传传递引发了一种推测，即赋予肺动脉高压易感性的基因可能位于负责β球蛋白的基因附近。
