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血高半胱氨酸过多和蛋白C缺乏是形成血栓栓塞的危险因素,在血栓形成中起相互协同的作用。两者皆可受遗传因素影响。Ⅰ型C蛋白缺乏是带有可变的外显率常染色体显性遗传的一种疾病,此病C蛋白活性及C蛋白抗原均减少。高半胱氨酸可抑制血栓调节素的表达和不可逆地灭活血栓调节素和C蛋白。因此血高半胱氨酸过多和C蛋白缺乏均为血栓和血栓栓塞并发症的独立的危险因素。本文报告1例家族遗传性的血高半胱氨酸过多和Ⅰ型C蛋白缺乏导致脑血管意外的患者。
Hyperhomocysteinemia and protein C deficiency are risk factors for thromboembolism and play a synergistic role in thrombosis. Both can be affected by genetic factors. Type I C deficiency is a disease with a variable penetrance autosomal dominant inheritance that decreases both protein C activity and protein C antigens. Homocysteine inhibits the expression of thrombomodulin and irreversibly inactivates thrombomodulin and protein C. Therefore, hyperhomocysteinemia and protein C deficiency are independent risk factors for thrombotic and thromboembolic complications. This article reports one case of familial hereditary hypercapatine and type I C protein deficiency in patients with cerebrovascular accidents.