年轻成人卒中中的遗传性结缔组织疾病：一项综合综述。

Vanakker Olivier M, Hemelsoet Dimitri, De Paepe Anne

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

Stroke Res Treat. 2011 Jan 20;2011:712903. doi: 10.4061/2011/712903.

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

尽管缺血性和出血性中风的遗传背景通常是多基因或多因素的，但在某些情况下，它可能由单基因疾病引起，尤其是在年轻人中。除了动脉病变和代谢紊乱外，几种结缔组织疾病也可能导致中风。虽然其中一些疾病几十年来一直被认为是中风的病因，如血管性埃勒斯-当洛综合征，但其他一些疾病直到最近才因参与中风发病机制而受到关注，如与IV型胶原相关的疾病。本文简要讨论了每种结缔组织疾病及其与中风的关系，强调了可导致其诊断的主要临床特征。