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[胶原黏附-聚集异常(第二篇报告)——先天性血小板膜糖蛋白VI缺乏症]

[Collagen adhesion-aggregation abnormality (2nd report)--congenital platelet membrane glycoprotein VI deficiency].

作者信息

Shinmyozu K, Kuriyama M, Okadome T, Maruyama Y, Maruyama I, Osame M

机构信息

Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.

出版信息

Rinsho Ketsueki. 1990 May;31(5):660-4.

PMID:2168494
Abstract

Previously, we reported a case of 26-year-old woman with a mild bleeding tendency whose platelets specifically lacked collagen-induced aggregation and adhesion to collagen fibrils. In this report, we investigated the membrane glycoproteins of this patient's platelets and found that her platelets were absent in a 61-kDa glycoprotein, which was identified to be glycoprotein VI (GP VI) of the platelet membrane. Her parents platelets contained about 50% the normal amount of GP VI. These results indicate that our patient has a congenital homozygous GP VI deficiency and that GP VI functions as a collagen receptor.

摘要

此前,我们报道过一例26岁有轻度出血倾向的女性病例,其血小板特别缺乏胶原诱导的聚集以及与胶原纤维的黏附。在本报告中,我们研究了该患者血小板的膜糖蛋白,发现其血小板中缺乏一种61 kDa的糖蛋白,经鉴定该糖蛋白为血小板膜糖蛋白VI(GP VI)。她父母的血小板中GP VI含量约为正常量的50%。这些结果表明,我们的患者患有先天性纯合性GP VI缺乏症,且GP VI作为一种胶原受体发挥作用。

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