Advances in related research about hereditary connective tissue diseases and the occurrence and rupture of intracranial aneurysm

doi:10.3969/j.issn.1672-6731.2021.02.009

Abstract

Abstract:

The mechanism of occurrence and rupture of intracranial aneurysm is complex and may involve various environmental and genetic factors. Histopathological studies of intracranial aneurysm suggest a possible relationship between intracranial aneurysm and connective tissue diseases. Clinical studies have shown that patients suffering from hereditary connective tissue diseases are at significantly increased risk of multiple cerebrovascular diseases such as intracranial aneurysm. Further studies have found that mutations in associated gene loci involved in these hereditary diseases are closely related to the occurrence and development of intracranial aneurysm. Based on previous literatures, this study aims to review intracranial aneurysm related hereditary connective tissue diseases and important gene loci involved.

Key words: Intracranial aneurysm, Connective tissue diseases, Genetic diseases, inborn, Genes, Mutation, Review

摘要：

颅内动脉瘤发生及破裂机制复杂，可能涉及多种环境因素与遗传因素的相互作用。颅内动脉瘤的发生发展与结缔组织病具有相关性，罹患遗传性结缔组织病的患者合并颅内动脉瘤等多种脑血管病的风险明显增加，这些遗传性结缔组织病的某些关联基因突变与颅内动脉瘤的发生发展密切相关。本文重点综述常见颅内动脉瘤相关遗传性结缔组织病及其关联基因位点。

关键词: 颅内动脉瘤, 结缔组织疾病, 遗传性疾病, 先天性, 基因, 突变, 综述

CHEN Rui-qi, GUO Rui, YOU Chao. Advances in related research about hereditary connective tissue diseases and the occurrence and rupture of intracranial aneurysm[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2021, 21(2): 114-120.

陈锐奇, 郭睿, 游潮. 遗传性结缔组织病与颅内动脉瘤发生与破裂相关研究进展[J]. 中国现代神经疾病杂志, 2021, 21(2): 114-120.

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