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家族性颅内动脉瘤和脑血管畸形。

Familial intracranial aneurysms and cerebral vascular anomalies.

作者信息

Hashimoto I

出版信息

J Neurosurg. 1977 Apr;46(4):419-27. doi: 10.3171/jns.1977.46.4.0419.

DOI:10.3171/jns.1977.46.4.0419
PMID:845628
Abstract

The author reports a family in which four members had intracranial aneurysms and one additional member was suspect. One member had multiple aneurysms that were successfully treated surgically. Elective angiography on five asymptomatic members of the family disclosed asymptomatic aneurysms in two. In addition, cerebrovascular anomalies were found in many of the family members. The parents of the family were consanguineous. High incidence of these associated anomalies and consanguinity in the parents tend to suggest the hereditary basis of the disease. Banding analysis of chromosomes in three siblings with aneurysms and three siblings without aneurysms was carried out. Elective investigation of the asymptomatic members should be considered where there are already two or more affected in a family. The indications for surgical prophylaxis on asymptomatic aneurysms in other members of the family are discussed.

摘要

作者报告了一个家族,其中四名成员患有颅内动脉瘤,另有一名成员疑似患病。一名成员有多个动脉瘤,经手术成功治疗。对该家族五名无症状成员进行的选择性血管造影显示,其中两人有无症状动脉瘤。此外,在许多家族成员中发现了脑血管异常。该家族的父母是近亲结婚。这些相关异常的高发病率以及父母的近亲关系倾向于表明该疾病的遗传基础。对三名患有动脉瘤的兄弟姐妹和三名没有动脉瘤的兄弟姐妹进行了染色体带型分析。如果一个家族中已经有两名或更多患者,应考虑对无症状成员进行选择性检查。讨论了对家族其他成员无症状动脉瘤进行手术预防的指征。

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Familial intracranial aneurysms and cerebral vascular anomalies.家族性颅内动脉瘤和脑血管畸形。
J Neurosurg. 1977 Apr;46(4):419-27. doi: 10.3171/jns.1977.46.4.0419.
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Familial occurrence of multiple intracranial aneurysms. Case reports and review of the literature.颅内多发动脉瘤的家族性发病情况。病例报告及文献综述。
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Genome-wide linkage in a large Dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13.在一个庞大的荷兰近亲家庭中进行的全基因组连锁分析将一个颅内动脉瘤位点定位到2号染色体的p13区域。
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A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm.一个平衡易位导致一个家族同时患有颅内和胸主动脉瘤的神经钙黏蛋白截断。
J Med Genet. 2012 Oct;49(10):621-9. doi: 10.1136/jmedgenet-2012-100977.
2
Vascular anomalies and the risk of multiple aneurysms development and bleeding.血管异常与多发性动脉瘤形成及出血风险
Interv Neuroradiol. 2002 Mar 30;8(1):15-20. doi: 10.1177/159101990200800103. Epub 2004 Oct 20.
3
Management of a ruptured cerebral aneurysm in infancy. Report of a case of a ten-month-old boy.
婴儿期破裂脑动脉瘤的治疗。一名10个月大男婴的病例报告。
Neurosurg Rev. 1998;21(2-3):161-6. doi: 10.1007/BF02389324.
4
Impaired in vitro proliferative response of suppressor lymphocytes in patients with subarachnoid haemorrhage from ruptured intracranial aneurysm.颅内动脉瘤破裂所致蛛网膜下腔出血患者抑制性淋巴细胞的体外增殖反应受损。
Acta Neurochir (Wien). 1993;122(3-4):240-3. doi: 10.1007/BF01405536.
5
Familial subarachnoid haemorrhage.家族性蛛网膜下腔出血
Ulster Med J. 1993 Oct;62(2):119-26.
6
A probably familial saccular aneurysm of the anterior communicating artery in a neonate.
Childs Nerv Syst. 1993 Aug;9(5):302-5. doi: 10.1007/BF00306281.
7
Familial occurrence of multiple intracranial aneurysms. Case reports and review of the literature.颅内多发动脉瘤的家族性发病情况。病例报告及文献综述。
Acta Neurochir (Wien). 1981;56(3-4):233-8. doi: 10.1007/BF01407233.
8
Dominant inheritance of intracranial berry aneurysm.颅内浆果状动脉瘤的显性遗传。
Br Med J (Clin Res Ed). 1981 Sep 26;283(6295):824-5. doi: 10.1136/bmj.283.6295.824.
9
Familial intracranial aneurysm and infundibular widening.
Neuroradiology. 1983;25(5):329-34. doi: 10.1007/BF00439213.
10
Co-existence of abdominal aortic aneurysms and intracranial aneurysms.腹主动脉瘤与颅内动脉瘤并存。
Acta Neurochir (Wien). 1987;87(1-2):34-9. doi: 10.1007/BF02076012.