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一名青少年患者中与抗凝血酶巴塞尔变异体及血浆脂蛋白(a)水平升高相关的复发性动脉血栓形成。

Recurrent arterial thrombosis associated with the antithrombin basel variant and elevated lipoprotein(a) plasma level in an adolescent patient.

作者信息

Szilágyi Szabolcs, Péter Andrea, Magyar Mária Tünde, Balogh Sándor, Bereczky Zsuzsanna

机构信息

Institute of Cardiology, Thrombosis and Haemostasis Research Group of the Hungarian Academy of Sciences, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.

出版信息

J Pediatr Hematol Oncol. 2012 May;34(4):276-9. doi: 10.1097/MPH.0b013e3182331ecd.

Abstract

Both myocardial infarction and ischemic stroke are rare in the young. Yet a 15-year-old male patient suffered a myocardial infarction and later an ischemic stroke despite uninterrupted antiplatelet therapy. His medical history involved the surgical correction of an incomplete atrioventricular canal defect at the age of 13 years. No cardiovascular risk factors other than elevated lipoprotein(a) level could be identified. His antithrombin (AT) activity was decreased and DNA sequence analysis revealed heterozygosity for AT Basel (p.Pro41Leu), a variant with impaired heparin binding. This report supports a possible additional pathophysiological role for AT Basel and elevated lipoprotein(a) level in arterial thrombogenesis.

摘要

心肌梗死和缺血性中风在年轻人中都很罕见。然而,一名15岁男性患者尽管接受了不间断的抗血小板治疗,仍发生了心肌梗死,随后又发生了缺血性中风。他的病史包括13岁时接受了不完全房室通道缺损的外科矫正。除了脂蛋白(a)水平升高外,未发现其他心血管危险因素。他的抗凝血酶(AT)活性降低,DNA序列分析显示为AT巴塞尔(p.Pro41Leu)杂合子,这是一种肝素结合受损的变体。本报告支持AT巴塞尔和升高的脂蛋白(a)水平在动脉血栓形成中可能具有额外的病理生理作用。

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