Factor XI deficiency in humans
Factor XI deficiency in humans
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DOI：
10.1111/j.1538-7836.2009.03395.x
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发表时间：
2009-07-01
影响因子：
10.4
通讯作者：
Seligsohn, U.
中科院分区：
文献类型：
--
作者：
Seligsohn, U.
因子XI（FXI）缺乏症是一种常染色体隐性损伤相关出血倾向，在犹太人特别是德系犹太人中很常见。迄今为止，已报告了152种FXI基因突变，其中4种在特定人群中表现出奠基者效应，即德系犹太人、伊拉克犹太人和阿拉伯人中的Glu117stop、德系犹太人中的Phe283Leu、巴斯克人中的Cys38Arg和英国的Cys128stop。重度FXI缺乏不能预防急性心肌梗死，但与缺血性卒中发生率降低相关。在暴露于血液制品后，三分之一的极重度FXI缺乏症患者会产生FXI抑制物。用于预防重度FXI缺乏患者手术期间出血的治疗包括血浆、因子XI浓缩物、纤维蛋白胶和抗纤维蛋白溶解剂。在具有FXI抑制剂的患者中，重组因子VIIa是有用的。
Factor XI (FXI) deficiency is an autosomal recessive injury-related bleeding tendency, which is common in Jews particularly of Ashkenazi origin. To date, 152 mutations in the FXI gene have been reported with four exhibiting founder effects in specific populations, Glu117stop in Ashkenazi and Iraqi Jews and Arabs, Phe283Leu in Ashkenazi Jews, Cys38Arg in Basques, and Cys128stop in the United Kingdom. Severe FXI deficiency does not confer protection against acute myocardial infarction, but is associated with a reduced incidence of ischemic stroke. Inhibitors to FXI develop in one-third of patients with very severe FXI deficiency following exposure to blood products. Therapy for prevention of bleeding during surgery in patients with severe FXI deficiency consists of plasma, factor XI concentrates, fibrin glue and antifibrinolytic agents. In patients with an inhibitor to FXI, recombinant factor VIIa is useful.