由于伴有高同型半胱氨酸血症和1型蛋白C缺乏症导致的家族性脑血管意外。
Familial cerebrovascular accidents due to concomitant hyperhomocysteinemia and protein C deficiency type 1.
作者信息
Franken D G, Vreugdenhil A, Boers G H, Verrips A, Blom H J, Novakova I R
机构信息
Department of Medicine, University Hospital Nijmegen, The Netherlands.
出版信息
Stroke. 1993 Oct;24(10):1599-600. doi: 10.1161/01.str.24.10.1599.
BACKGROUND AND PURPOSE
Hyperhomocysteinemia and protein C deficiency are risk factors for thromboembolism. Hyperhomocysteinemia has been reported to inhibit the expression of thrombomodulin and to inactivate both thrombomodulin and protein C irreversibly, leading to decreased protein C activity.
CASE DESCRIPTIONS
In a 16-year-old girl, who developed a sinus sagittalis thrombosis, and in her father, who experienced a transient ischemic attack, both hyperhomocysteinemia and protein C deficiency type 1 were present. Protein C deficiency alone was found in one of the two sisters, who was without any clinical vascular history.
CONCLUSIONS
In this family with independently inherited hyperhomocysteinemia and protein C deficiency, clinical cerebrovascular disease occurred only in those members with a combination of both risk factors, suggesting a synergistic interaction between these thrombogenic risk factors.
背景与目的
高同型半胱氨酸血症和蛋白C缺乏是血栓栓塞的危险因素。据报道，高同型半胱氨酸血症会抑制血栓调节蛋白的表达，并使血栓调节蛋白和蛋白C不可逆地失活，从而导致蛋白C活性降低。
病例描述
一名16岁患矢状窦血栓形成的女孩及其经历短暂性脑缺血发作的父亲，均存在高同型半胱氨酸血症和1型蛋白C缺乏。在其两名姐妹中的一人身上仅发现蛋白C缺乏，该姐妹无任何临床血管病史。
结论
在这个独立遗传的高同型半胱氨酸血症和蛋白C缺乏的家族中，临床脑血管疾病仅发生在同时具有这两种危险因素的成员中，提示这些致血栓危险因素之间存在协同相互作用。
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