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揭示动脉瘤性疾病的家族倾向:腘动脉瘤、高血压与原纤蛋白基因型

Unravelling the familial tendency to aneurysmal disease: popliteal aneurysm, hypertension and fibrillin genotype.

作者信息

MacSweeney S T, Skidmore C, Turner R J, Sian M, Brown L, Henney A M, Greenhalgh R M, Powell J T

机构信息

Department of Surgery, Charing Cross & Westminster Medical School, London, U.K.

出版信息

Eur J Vasc Endovasc Surg. 1996 Aug;12(2):162-6. doi: 10.1016/s1078-5884(96)80101-8.

DOI:10.1016/s1078-5884(96)80101-8
PMID:8760977
Abstract

PURPOSE

To screen patients with abdominal aortic aneurysm for popliteal aneurysm and investigate cardiovascular and genetic risk factors associated with aneurysmal disease at more than one site (generalised aneurysmal disease). SUBJECTS, DESIGN AND SETTING: All patients referred to the Regional Vascular Surgical Service at Charing Cross Hospital with unruptured abdominal aortic aneurysm between 1989 and 1993 were screened for popliteal aneurysms, using ultrasonography.

MAIN OUTCOME MEASURES

Palpation of a popliteal aneurysm or ultrasonographic detection of popliteal dilatation, where the ratio maximum popliteal fossa diameter/suprageniculate popliteal diameter was > or = 1.5, in relation to cardiovascular and genetic risk factors.

RESULTS

Clinical examination detected popliteal aneurysms in only 11/232 patients (5%), but ultrasonography demonstrated the presence of popliteal aneurysm in a further 13 patients, 24/232 in total (10%). Multivariate regression identified four independent factors associated with popliteal dilatation disease: age (p = 0.046), height (p = 0.006), systolic hypertension (p = 0.037) and triglyceride concentration (p = 0.009). Generalised aneurysmal disease and systolic blood pressure were associated with polymorphic variation in the fibrillin-1 gene, but not with variations in the apolipoprotein B and type III collagen genes.

CONCLUSIONS

Few patients with abdominal aortic aneurysm (10%) also have popliteal aneurysms: the risk of popliteal dilatation increases with age, height, systolic blood pressure, triglyceride concentration and fibrillin genotype. The strong interaction between fibrillin genotype and blood pressure may contribute to the familial tendency to aortic aneurysm.

摘要

目的

筛查腹主动脉瘤患者是否患有腘动脉瘤,并调查与多部位动脉瘤疾病(全身性动脉瘤疾病)相关的心血管和遗传风险因素。对象、设计与地点:1989年至1993年间转诊至查令十字医院区域血管外科服务中心的所有未破裂腹主动脉瘤患者,均采用超声检查筛查腘动脉瘤。

主要观察指标

触及腘动脉瘤或超声检测到腘窝扩张(腘窝最大直径/膝上腘动脉直径之比≥1.5),并分析其与心血管和遗传风险因素的关系。

结果

临床检查仅在232例患者中的11例(5%)检测到腘动脉瘤,但超声检查又发现了另外13例患者存在腘动脉瘤,总计24例(10%)。多因素回归分析确定了与腘窝扩张疾病相关的四个独立因素:年龄(p = 0.046)、身高(p = 0.006)、收缩期高血压(p = 0.037)和甘油三酯浓度(p = 0.009)。全身性动脉瘤疾病和收缩压与原纤蛋白-1基因的多态性变异有关,但与载脂蛋白B和III型胶原基因的变异无关。

结论

很少有腹主动脉瘤患者(10%)同时患有腘动脉瘤:腘窝扩张的风险随着年龄、身高、收缩压、甘油三酯浓度和原纤蛋白基因型的增加而增加。原纤蛋白基因型与血压之间的强烈相互作用可能导致主动脉瘤的家族倾向。

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