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与先天性心脏病和颅内出血相关的凝血因子V缺乏症

Factor v deficiency associated with congenital cardiac disorder and intracranial hemorrage.

作者信息

Ozkaya Halit, Akcan A Barıs, Aydemir Gökhan, Akcan Mediha, Kul Mustafa

机构信息

Department of Pediatrics, GATA Haydarpaşa Teaching Hospital, Uskudar, 34668 Istanbul, Turkey.

Department of Pediatrics, Division of Pediatric Hemotology and Oncology, Akdeniz University, Antalya, Turkey.

出版信息

Indian J Hematol Blood Transfus. 2013 Jun;29(2):99-101. doi: 10.1007/s12288-012-0149-8. Epub 2012 Mar 21.

Abstract

Factor V deficiency is an inherited disorder, in which the clotting factor V is low. The disorder is very rare, occurring in only one in one million people. It is inherited as an autosomal recessive disorder. The results of coagulation studies include a prolonged prothrombin time and partial thromboplastin time associated with reduced plasma factor V content. Patients with factor V deficiency have a hemophiliac like hemorrhagic disorder. Epistaxis, bruising, and menorrhagia are some of the common features. If treatment is needed, fresh frozen plasma is typically given. In this report we present a 12 year old girl who was admitted to our clinic with recurrent nosebleeds and intracranial hemorrage after head trauma. After examination, factor V deficiency was diagnosed. She also had congenital cardiac disorder (VSD), probably a co-incidental finding.

摘要

因子V缺乏症是一种遗传性疾病,其中凝血因子V水平较低。这种疾病非常罕见,仅在百万分之一的人群中出现。它作为常染色体隐性疾病遗传。凝血研究结果包括凝血酶原时间延长和部分凝血活酶时间延长,同时血浆因子V含量降低。因子V缺乏症患者患有类似血友病的出血性疾病。鼻出血、瘀伤和月经过多是一些常见特征。如果需要治疗,通常给予新鲜冷冻血浆。在本报告中,我们介绍了一名12岁女孩,她因头部外伤后反复鼻出血和颅内出血而入住我们的诊所。经检查,诊断为因子V缺乏症。她还患有先天性心脏病(室间隔缺损),这可能是一个偶然发现。

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本文引用的文献

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Factor V Leiden and hemophilia.因子 V 莱顿突变和血友病。
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Factor V deficiency.凝血因子V缺乏症
Semin Thromb Hemost. 2009 Jun;35(4):382-9. doi: 10.1055/s-0029-1225760. Epub 2009 Jul 13.
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Factor V deficiency: a concise review.因子V缺乏症:简要综述。
Haemophilia. 2008 Nov;14(6):1164-9. doi: 10.1111/j.1365-2516.2008.01785.x.

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