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脑出血与浆果状动脉瘤:来自一个家族的常染色体显性遗传模式的证据。

Cerebral haemorrhage and berry aneurysm: evidence from a family for a pattern of autosomal dominant inheritance.

作者信息

Shinton R, Palsingh J, Williams B

机构信息

University Department of Medicine, Dudley Road Hospital, Birmingham, UK.

出版信息

J Neurol Neurosurg Psychiatry. 1991 Sep;54(9):838-40. doi: 10.1136/jnnp.54.9.838.

Abstract

Although families with several members suffering a cerebral haemorrhage have been reported previously, a family history of this stroke sub-type has not yet been firmly established as a risk factor for the disease. A family in whom cerebral haemorrhage has been clearly documented in five members, spanning three generations, is reported. In three a berry aneurysm was detected. There was no evidence of hypertension among any of the five cases. A sixth member of the family probably died of a cerebral haemorrhage but no necropsy was performed. By using established incidence rates for cerebral haemorrhage in the population, the probability of five such unrelated events arising in any family of similar size and longevity was calculated to be 4.9 x 10(-10). This family strengthens the case that an underlying genetic susceptibility does exist for a proportion of patients who have a cerebral haemorrhage. This susceptibility appears to be consequent upon berry aneurysm formation. The distribution of cases within this family is consistent with an autosomal dominant pattern of inheritance.

摘要

虽然此前已有报道称家庭成员中有数人患脑出血,但这种中风亚型的家族病史尚未被确认为该病的风险因素。本文报道了一个家族,在这个家族中,三代人中的五名成员均有明确记录的脑出血病例。其中三人检测出患有浆果状动脉瘤。这五例病例中均无高血压迹象。该家族的第六名成员可能死于脑出血,但未进行尸检。通过使用人群中既定的脑出血发病率,计算出在任何规模和寿命相似的家族中出现五起此类不相关事件的概率为4.9×10⁻¹⁰。这个家族进一步证明了一部分脑出血患者确实存在潜在的遗传易感性。这种易感性似乎是由浆果状动脉瘤的形成所致。该家族中病例的分布符合常染色体显性遗传模式。

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