经典型埃勒斯-当洛综合征合并髂总动脉瘤、自发性夹层及对侧医源性髂总动脉夹层
Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome.
作者信息
Mehta Sachin, Dhar Shweta U, Birnbaum Yochai
机构信息
Division of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, Texas.
出版信息
Int J Angiol. 2012 Sep;21(3):167-70. doi: 10.1055/s-0032-1325118.
Abstract
We describe a 43-year-old man who developed a spontaneous dissection of a right iliac artery aneurysm after performing vigorous physical exercise. Additionally, during peripheral intervention, the patient developed iatrogenic dissection of the left iliac artery. The patient had the characteristic physical findings of Ehlers-Danlos syndrome (EDS), classic type. Genetic testing revealed a mutation in the COL5A1 gene associated with EDS, classic type. Vascular aneurysms and dissections are characteristics of EDS vascular type, but not the classic type. Only one previous case with EDS, classic type with spontaneous iliac artery dissection has been described.
摘要
我们描述了一名43岁男性，他在剧烈体育锻炼后发生了右髂动脉瘤自发性夹层。此外，在进行外周介入治疗期间，该患者发生了左髂动脉医源性夹层。该患者具有典型的经典型埃勒斯-当洛综合征（EDS）的体格检查结果。基因检测显示与经典型EDS相关的COL5A1基因发生了突变。血管动脉瘤和夹层是EDS血管型的特征，但不是经典型的特征。此前仅报道过一例经典型EDS伴自发性髂动脉夹层的病例。
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本文引用的文献
1
Sudden and unexpected death in three cases of Ehlers-Danlos syndrome type IV.3例IV型埃勒斯-当洛综合征患者的猝死及意外死亡。
J Forensic Sci. 2010 Nov;55(6):1641-5. doi: 10.1111/j.1556-4029.2010.01521.x. Epub 2010 Aug 12.
2
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.经典型埃勒斯-当洛斯综合征伴 COL5A1 突变导致的动脉破裂。
Am J Med Genet A. 2010 Aug;152A(8):2090-3. doi: 10.1002/ajmg.a.33541.
3
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.原α（I）-胶原蛋白链中的三个精氨酸被半胱氨酸取代会导致埃勒斯-丹洛斯综合征，在成年早期有动脉破裂的倾向。
Hum Mutat. 2007 Apr;28(4):387-95. doi: 10.1002/humu.20455.
4
Death due to Ehlers-Danlos syndrome type IV.
Am J Forensic Med Pathol. 2005 Mar;26(1):78-82. doi: 10.1097/01.paf.0000153997.06338.4b.
5
Vascular Ehlers-Danlos syndrome.血管型埃勒斯-当洛综合征
Ann Genet. 2004 Jan-Mar;47(1):1-9. doi: 10.1016/j.anngen.2003.07.002.
6
Clinical and genetic features of vascular Ehlers-Danlos syndrome.血管性埃勒斯-当洛综合征的临床和遗传特征
Ann Vasc Surg. 2002 May;16(3):391-7. doi: 10.1007/s10016-001-0229-y. Epub 2002 May 21.
7
Ruptured dissecting aneurysm in bilateral iliac arteries caused by Ehlers-Danlos syndrome type IV: report of a case.Ⅳ型埃勒斯-当洛综合征致双侧髂动脉夹层动脉瘤破裂：病例报告
Surg Today. 2001;31(1):85-9. doi: 10.1007/s005950170228.
8
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).埃勒斯-当洛综合征：修订的疾病分类学，1997年，法国维勒弗朗什。美国埃勒斯-当洛国家基金会和英国埃勒斯-当洛支持小组。
Am J Med Genet. 1998 Apr 28;77(1):31-7. doi: 10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o.
9
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen.
Neurology. 1996 Aug;47(2):552-6. doi: 10.1212/wnl.47.2.552.
10
Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.埃勒斯-当洛综合征：临床与遗传异质性的最新进展及当前认识
J Invest Dermatol. 1994 Nov;103(5 Suppl):47S-52S. doi: 10.1111/1523-1747.ep12399038.
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