蛋白C缺乏和凝血酶原基因突变共存导致新生儿血栓形成

K. Acharyya, S. Acharyya
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引用次数: 0

摘要

超声心动图未见结构异常。但心导管检查显示主动脉远端梗阻存在一个大腔内血栓。输注尿激酶溶栓未果。然后手术探查受影响的血管,并从远端腹主动脉取出一个大血栓。随后患儿恢复平稳,下肢搏动恢复。血栓概况显示先天性蛋白C缺乏症和同时发生的嗜血栓凝血酶原基因突变的潜在诊断。这是一个非常不寻常的新生儿血栓形成治疗成功的血管外科手术。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coexistence of protein C deficiency and prothrombin gene mutation causing neonatal thrombosis
There was no structural abnormality in echocardiography. But Cardiac catheterization revealed the presence of distal aortic obstruction by a large intraluminal thrombus. An attempt to dissolve the thrombus with urokinase infusion was unsuccessful. The affected vessels were then surgically explored and a large thrombus from the distal abdominal aorta was removed. Following this the child recovered uneventfully with return of lower limb pulsation. A thrombotic profile revealed the underlying diagnosis of congenital Protein C deficiency and a simultaneous thrombophilic prothrombin gene mutation. This is an extremely unusual presentation of neonatal thrombosis treated by successful vascular surgical procedure.
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