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在一名21岁的易栓症男性中发现了纯合子蛋白C缺乏症合并杂合子异常纤溶酶原血症。

Homozygous protein C deficiency combined with heterozygous dysplasminogenemia found in a 21-year-old thrombophilic male.

作者信息

Manabe S, Matsuda M

出版信息

Thromb Res. 1985 Aug 1;39(3):333-41. doi: 10.1016/0049-3848(85)90229-4.

Abstract

A congenital, probably homozygous deficiency of protein C combined with a heterozygous molecular abnormality of plasminogen was found in a 21-year-old male who had been suffering from recurrent venous thrombosis since the age of 14. Although the homozygous deficiency of protein C has been reported to be closely associated with fatal purpura fulminans or severe and massive thrombotic diseases during the neonatal period, the patient had survived the neonatal period without any clinical manifestations relevant to thrombosis. The patient apparently inherited the genetic abnormality of protein C deficiency from both of his parents and that of abnormal plasminogen from his father.

摘要

在一名自14岁起就反复发生静脉血栓形成的21岁男性中,发现其存在先天性、可能为纯合子的蛋白C缺乏,同时伴有纤溶酶原的杂合子分子异常。虽然据报道,纯合子蛋白C缺乏与新生儿期致命性暴发性紫癜或严重的大面积血栓形成性疾病密切相关,但该患者在新生儿期存活下来,没有任何与血栓形成相关的临床表现。该患者显然从父母双方遗传了蛋白C缺乏的基因异常,从父亲那里遗传了异常纤溶酶原的基因异常。

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