肝移植过程中大量暴发性血栓形成患者先前未知的抗凝血酶途径突变。

D. Bezinover, S. Sugino, Yuka Imamura-Kawasawa, M. S. Bell, Z. Kadry, P. Janicki
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摘要

我们报告一例在已故供肝移植术中暴发性血栓形成的病例。尽管有大量内科出血,但患者突然在心脏和肺血管的所有腔室中出现弥漫性血栓形成,导致术中死亡。患者死后的遗传分析表明,在凝血途径基因serinc1中存在有害的错义突变,serinc1编码抗凝血酶III。抗凝血酶III的水平不能直接证明血栓形成的因果关系,但我们的研究结果表明,这种突变,结合高凝性肝硬化患者的抗纤溶药物治疗,可能促成了这种灾难性血栓事件的发展。
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Massive Fulminant Thrombosis During Liver Transplantation in a Patient With a Previously Unknown Antithrombin Pathway Mutation.
We describe a case of fulminant intraoperative thrombosis during deceased donor liver transplantation. Despite significant medical bleeding, the patient suddenly developed diffuse thrombosis in all chambers of the heart and pulmonary vasculature resulting in intraoperative death. The patient's postmortem genetic analysis demonstrated a deleterious missense mutation in a coagulation pathway gene, SERPINC1, which codes for antithrombin III. The level of antithrombin III was not available to directly prove the causality of thrombosis, but our findings suggest that this mutation, in combination with antifibrinolytic administration in a hypercoagulable cirrhotic patient, might have contributed to the development of this catastrophic thrombotic event.
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