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伴有亚甲基四氢叶酸还原酶(MTHFR)基因杂合突变的非活动期溃疡性结肠炎合并门静脉、脾静脉和肠系膜静脉血栓形成:一例罕见的易栓症病例

Combined portal, splenic and mesenteric venous thrombosis in inactive ulcerative colitis with heterozygous mutation in MTHFR gene: A rare case of thrombophilia.

作者信息

Gürsoy Gül, Cimbek Ahmet, Acar Yaşar, Erol Birsen, Dal Hayriye Cankar, Evrin Nuray, Gungor Aslı

机构信息

Associate Professor, Department of Internal Medicine, Ministry of Health Ankara Education and Research Hospital, Ankara, Turkey.

出版信息

J Res Med Sci. 2011 Nov;16(11):1500-6.

Abstract

Thrombophilia is a rare but potentially catastrophic phenomenon occurring in patients having tendency of thrombosis. It may lead to serious complications. The etiology of thrombophilia is thought to be multifactorial and related to both acquired and inherited factors. Inflammatory bowel disease is an acquired cause of thrombophilia. Thromboembolic events are seen during inflammatory bowel disease, especially during the active period of the disease. In inflammatory bowel disease, thrombus formation in portal, splenic and mesenteric veins are not common. Besides, the association of genetic disorders related to metabolism of homocysteine with inflammatory bowel disease has been evidenced, especially in Crohn disease and rarely in ulcerative colitis. We present a rare case of ulcerative colitis in association with combined portal, splenic and mesenteric vein thrombosis. The patient was recently diagnosed with the disease which was in the inactive period. Interestingly, our patient was also heterozygous for the mutation in methylenetetrahydrofolate reductase (MTHFR) gene.

摘要

易栓症是一种发生在有血栓形成倾向患者中的罕见但可能具有灾难性的现象。它可能导致严重并发症。易栓症的病因被认为是多因素的,与获得性和遗传性因素均有关。炎症性肠病是易栓症的一个获得性病因。在炎症性肠病期间可见血栓栓塞事件,尤其是在疾病的活动期。在炎症性肠病中,门静脉、脾静脉和肠系膜静脉血栓形成并不常见。此外,已证实与同型半胱氨酸代谢相关的遗传疾病与炎症性肠病有关,尤其是在克罗恩病中,在溃疡性结肠炎中则很少见。我们报告一例罕见的溃疡性结肠炎合并门静脉、脾静脉和肠系膜静脉血栓形成的病例。该患者最近被诊断为此病,处于非活动期。有趣的是,我们的患者亚甲基四氢叶酸还原酶(MTHFR)基因也存在杂合突变。

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