Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection

Gu Guangchao; Yang Hang; Cui Lijia; Fu Yuanyuan; Li Fangda; Zhou Zhou; Zheng Yuehong

首页> 外文期刊>Vascular and endovascular surgery >Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection

【24h】

Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection

机译：血管ehlers-danlos综合征，具有新的畸形Col3a1突变存在肺部并发症和髂动脉解剖

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Vascular Ehlers-Danlos syndrome was diagnosed based on clinical manifestations and confirmed by the identification of COL3A1 gene mutation. Due to high bleeding tendency and weak cardiopulmonary capacity, conservative treatment was taken for him. To our knowledge, this is the first report of vEDS case in which the patient developed both pulmonary complications and dissection of large arteries. Our report emphasizes the importance of considering vEDS when an adolescent develops unexplained pulmonary cysts with fragility of lung tissues. Genetic counseling and close monitoring should be performed for earlier diagnosis and prevention of severe complications of large arteries. The typical presentations of vEDS were also discussed by means of a review of case reports on vEDS with pulmonary complications.

机译：血管ehlers-danlos综合征（veds）是一种危及生命的结缔组织障碍，由于其高趋势和器官破裂的趋势。 veds的肺部并发症很少见。我们展示了一名年轻男性患者，veds在他生命中不同阶段发育严重的肺部并发症和严重破裂的髂动脉。基于临床表现诊断血管Ehlers-Danlos综合征，并通过鉴定COL3A1基因突变证实。由于出血性高，心肺疲软，保守治疗是针对他的。为了我们的知识，这是患者发育肺部并发症和大型动脉疏松症的第一份报告。我们的报告强调了当青少年发展具有肺组织脆弱性的青少年发展不明原因的肺囊肿时，重视考虑veds的重要性。应对早期诊断和预防大型动脉严重并发症进行遗传咨询和密切监测。还通过审查患有肺部并发症的案件报告的案例报告讨论了VED的典型演示。

著录项

来源
《Vascular and endovascular surgery》 |2018年第2期|共5页
作者
Gu Guangchao; Yang Hang; Cui Lijia; Fu Yuanyuan; Li Fangda; Zhou Zhou; Zheng Yuehong;
展开▼
作者单位

Beijing Union Med Coll Hosp Dept Vasc Surg 1 Shuaifuyuan Beijing 100730 Peoples R China;

Chinese Acad Med Sci Fuwai Hosp Natl Ctr Cardiovasc Dis Diagnost Lab Serv State Key Lab;

Beijing Union Med Coll Hosp Dept Vasc Surg 1 Shuaifuyuan Beijing 100730 Peoples R China;

Chinese Acad Med Sci Fuwai Hosp Natl Ctr Cardiovasc Dis Diagnost Lab Serv State Key Lab;

Beijing Union Med Coll Hosp Dept Vasc Surg 1 Shuaifuyuan Beijing 100730 Peoples R China;

Chinese Acad Med Sci Fuwai Hosp Natl Ctr Cardiovasc Dis Diagnost Lab Serv State Key Lab;

Beijing Union Med Coll Hosp Dept Vasc Surg 1 Shuaifuyuan Beijing 100730 Peoples R China;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类心脏血管和淋巴系外科学;
关键词
Ehlers-Danlos syndrome type IV; arterial dissection; pulmonary cyst; COL3A1;

机译：ehlers-danlos综合征IV型;动脉解剖;肺囊肿;COL3A1;

相似文献

外文文献
中文文献
专利

1. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection [J] . Gu Guangchao, Yang Hang, Cui Lijia, Vascular and endovascular surgery . 2018,第2期

机译：血管ehlers-danlos综合征，具有新的畸形Col3a1突变存在肺部并发症和髂动脉解剖
2. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report [J] . Tingting Wan, Jinyan Ye, Peiliang Wu, BMC Pulmonary Medicine . 2020,第1期

机译：具有血管ehlers-danlos综合征的雄性患者的复发性气胸和肺内腔内病变和COL3A1基因中的新型畸形突变：案例报告
3. A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1 [J] . Abrahamsen Bjorg J., Kulseth Mari Ann, Paus Benedicte Chest: The Journal of Circulation, Respiration and Related Systems . 2015,第5期

机译：19岁的男子患有复发性双侧气胸，咯血和肺内腔病变，诊断为血管性Ehlers-Danlos综合征和一种新型的COL3A1错义突变。
4. Insight in vascular fragility induced by collagen structural change using ultrafast ultrasound imaging in a mouse model of vascular Ehlers-Danlos syndrome [C] . Guillaume Goudot, Tristan Mirault, Véronique Baudrie, IEEE International Ultrasonics Symposium . 2017

机译：使用超快速超声成像在血管性Ehlers-Danlos综合征小鼠模型中了解胶原蛋白结构变化引起的血管脆性
5. Altered cytokine signaling in the pathogenesis of vascular Ehlers-Danlos syndrome [D] . Cooper, Timothy K. 2011

机译：细胞因子信号通路在血管性Ehlers-Danlos综合征发病机理中的作用
6. Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation [O] . Kosuke Sakai, Maiko Toda, Hiroyuki Kyoyama, 2019

机译：血管性Ehlers-Danlos综合征伴有COL3A1的新型错义突变：一名50多岁的男子在主治动脉血栓介入治疗后主动脉夹层
7. Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome. [O] . Makrygiannis, Georgios, Loeys, Bart, Defraigne, Jean-Olivier, 2015

机译：一个具有新型Ehlers-Danlos综合征错义COL3A1突变家族的家庭的颈动脉夹层和A型主动脉夹层。

Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection

摘要

著录项

相似文献

相关主题

期刊订阅