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
{"title":"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","authors":"K. Acharyya, S. Acharyya","doi":"10.15761/ccsr.1000121","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":10345,"journal":{"name":"Clinical Case Studies and Reports","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Coexistence of protein C deficiency and prothrombin gene mutation causing neonatal thrombosis\",\"authors\":\"K. Acharyya, S. Acharyya\",\"doi\":\"10.15761/ccsr.1000121\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":10345,\"journal\":{\"name\":\"Clinical Case Studies and Reports\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Case Studies and Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15761/ccsr.1000121\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Case Studies and Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15761/ccsr.1000121","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信