Schievink W I
Cedars-Sinai Neurosurgical Institute, Los Angeles, California, USA.
Neurosurg Clin N Am. 1998 Jul;9(3):485-95.
This article reviews the current understanding of genetic factors involved in the development of intracranial aneurysms. Of the large number of heritable connective tissue disorders that have been associated with intracranial aneurysms, three are discussed in detail: autosomal dominant polycystic kidney disease, Ehlers-Danlos syndrome type IV, and alpha 1-antitrypsin deficiency. The author reviews the familial occurrence of intracranial aneurysms, which is found in about one-fifth of patients with aneurysm subarachnoid hemorrhage. Guidelines are provided for the evaluation of patients with familial intracranial aneurysms and screening of their relatives.
本文综述了目前对颅内动脉瘤形成过程中所涉及的遗传因素的认识。在众多与颅内动脉瘤相关的遗传性结缔组织疾病中，详细讨论了三种疾病：常染色体显性多囊肾病、IV型埃勒斯-当洛综合征和α1-抗胰蛋白酶缺乏症。作者回顾了颅内动脉瘤的家族发病情况，约五分之一的动脉瘤性蛛网膜下腔出血患者存在家族发病情况。文中还提供了对家族性颅内动脉瘤患者进行评估及其亲属筛查的指导原则。
