Mellergård P, Ljunggren B, Brandt L, Johnson U, Holtås S
Department of Neurosurgery, University Hospital, Lund, Sweden.
Br J Neurosurg. 1989;3(4):479-85. doi: 10.3109/02688698909002834.
The pedigree of a family where three of nine siblings had suffered from aneurysmal subarachnoid haemorrhage (SAH) was explored, by means of interviews and revisions of population and medical records. We thus found two nephews with previously ruptured intracranial aneurysms. Subsequently high resolution computerised tomography (CT) scans were performed in the remaining six siblings, one of which was shown to harbor an intracranial aneurysm. This individual was subjected to uncomplicated clipping of the aneurysm. Typing of human leukocyte antigen (HLA) was performed in 15 individuals of the pedigree. Three of the six HLA-antigens recently reported to occur in increased frequently in a series of (non-familial) patients with ruptured aneurysm were found, namely B7, DR2 and Cw2. Most noteable was the expression of the antigen B7 in five of the six individuals with aneurysm in the investigated family. At present HLA-typing is not a useful screening tool to identify individuals in the general population with an increased risk of developing intracranial aneurysms. The present study shows that HLA-typing could neither be used to predict the occurrence of intracranial aneurysms in the siblings in the investigated family. HLA-typing may provide further clues to our understanding of the etiology of intracranial aneurysms, especially concerning possible genetic factors. The authors thus would like to encourage HLA-typing in previously known and newly detected families with accumulation of intracranial aneurysms.
通过访谈以及查阅人口和医疗记录,对一个九兄弟姐妹中有三人患动脉瘤性蛛网膜下腔出血(SAH)的家族谱系进行了探究。我们由此发现了两名曾有颅内动脉瘤破裂的侄子。随后,对其余六名兄弟姐妹进行了高分辨率计算机断层扫描(CT),其中一人被发现患有颅内动脉瘤。该患者接受了动脉瘤夹闭手术,手术过程顺利。对该家族谱系中的15人进行了人类白细胞抗原(HLA)分型。在一系列(非家族性)动脉瘤破裂患者中最近报道出现频率增加的六种HLA抗原中,发现了三种,即B7、DR2和Cw2。最值得注意的是,在被调查家族中患有动脉瘤的六人中,有五人表达了抗原B7。目前,HLA分型并非识别普通人群中颅内动脉瘤发病风险增加个体的有用筛查工具。本研究表明,HLA分型也无法用于预测被调查家族中兄弟姐妹颅内动脉瘤的发生情况。HLA分型可能为我们理解颅内动脉瘤的病因,尤其是可能的遗传因素,提供进一步线索。因此,作者鼓励在先前已知和新发现的颅内动脉瘤聚集家族中进行HLA分型。