Congenital protein C deficiency and venous thromboembolism. A study of three Dutch families.
Congenital protein C deficiency and venous thromboembolism. A study of three Dutch families.
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先天性蛋白C缺乏和静脉血栓栓塞。
DOI：
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发表时间：
1983
影响因子：
158.5
通讯作者：
R. Bertina
中科院分区：
文献类型：
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作者：
A. Broekmans;J. Veltkamp;R. Bertina
蛋白C是参与血液凝固的维生素K依赖性丝氨酸蛋白酶的酶原。在缺乏蛋白C的情况下，活化因子V和VIIIC的失活受损，并且循环血液的纤溶能力降低。这些条件促进过度的纤维蛋白形成，从而构成血栓形成的危险因素。使用蛋白C的免疫测定，我们确定了18例患者（11名男性和7名女性）在三个不相关的荷兰家庭作为满足标准的孤立的蛋白C缺乏症。在12名未接受口服抗凝剂治疗的患者中，平均蛋白C抗原浓度为0.48 +/- 0.09 U/ml（+/- S.D.），在6名接受调整剂量口服抗凝剂并具有稳定抗凝作用的患者中，平均值为0.17 +/- 0.05 U/ml。(The健康受试者的值为0.98 +/- 0.19 U/ml。）18例患者中有14例有静脉血栓栓塞病史，浅表血栓性静脉炎是这种疾病的标志（13例患者）。这些数据是一致的常染色体显性性状与变量的表达。
Protein C is the zymogen of a vitamin K-dependent serine protease involved in blood coagulation. In the absence of protein C the inactivation of activated factors V and VIIIC is impaired, and the fibrinolytic capacity of the circulating blood is reduced. These conditions promote excessive fibrin formation and thus constitute a risk factor for thrombosis. Using an immunologic assay for protein C, we identified 18 patients (11 male and 7 female) in three unrelated Dutch families as fulfilling the criteria for an isolated protein C deficiency. In 12 patients who were not receiving oral anticoagulant treatment the mean protein C antigen concentration was 0.48 +/- 0.09 U per milliliter (+/- S.D.), and in 6 patients who were receiving adjusted doses of oral anticoagulants and had stable anticoagulation, the mean value was 0.17 +/- 0.05 U per milliliter. (The value in healthy subjects is 0.98 +/- 0.19 U per milliliter.) Fourteen of the 18 patients had a history of venous thromboembolism, with superficial thrombophlebitis as the hallmark of this condition (in 13 patients). These data are consistent with an autosomal dominant trait with variable expressivity.
DOI：
10.1016/s0021-9258(19)68276-1
发表时间：
1982-01
期刊：
The Journal of biological chemistry
影响因子：
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作者：
N. Esmon;W. Owen;C. Esmon
通讯作者：
N. Esmon;W. Owen;C. Esmon