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首页> 外文期刊>Neurosurgery >Fibromuscular dysplasia of the internal carotid artery associated with alpha1-antitrypsin deficiency.
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Fibromuscular dysplasia of the internal carotid artery associated with alpha1-antitrypsin deficiency.

机译：颈内动脉纤维肌增生异常与α1-抗胰蛋白酶缺乏有关。

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OBJECTIVE: A deficiency of alpha1-antitrypsin has been implicated in the development of various disorders affecting medium-sized arteries, including intracranial aneurysms, cervicocephalic arterial dissections, and fibromuscular dysplasia (FMD). We performed alpha1-antitrypsin phenotyping in three consecutive patients who underwent bypass surgery for FMD of the extracranial internal carotid artery to test the hypothesis that alpha1-antitrypsin deficiency is a genetic risk factor for the development of FMD. METHODS: The study population consisted of three women (aged 37, 49, and 53 years, respectively) who had bilateral internal carotid artery stenosis caused by FMD. The indications for surgery included ocular or cerebral ischemic symptoms in two patients and progressive stenosis in one patient. The diagnosis of FMD was confirmed by histological examination of the resected segment of artery. The alpha1-antitrypsin phenotype was determined by isoelectric focusing in polyacrylamide gels. RESULTS: Two of the three patients had a heterozygous alpha1-antitrypsin deficiency (PiMZ phenotype). Pathological examination of the resected arterial segment showed typical medial FMD with focal intimal fibroplasia in both patients with the PiMZ phenotype. CONCLUSION: These findings suggest that a heterozygous alpha1-antitrypsin deficiency may be a genetic risk factor for the development of FMD of the internal carotid artery.
机译：目的：α1-抗胰蛋白酶的缺乏与多种影响中型动脉的疾病发展有关，包括颅内动脉瘤，颈脑动脉夹层动脉瘤和纤维肌发育不良（FMD）。我们对三名接受颅外颈内动脉FMD旁路手术的连续患者进行了α1-抗胰蛋白酶表型分析，以检验α1-抗胰蛋白酶缺乏是FMD发生的遗传危险因素这一假设。方法：研究人群包括三名分别患有口蹄疫引起的双侧颈内动脉狭窄的女性（分别为37、49和53岁）。手术适应症包括两名患者的眼或脑缺血症状和一名患者的进行性狭窄。通过对切除的动脉段进行组织学检查证实FMD的诊断。通过在聚丙烯酰胺凝胶中等电聚焦确定α1-抗胰蛋白酶的表型。结果：三名患者中有两名患有杂合性α1-抗胰蛋白酶缺乏症（PiMZ表型）。切除的动脉节段的病理学检查显示，PiMZ表型的两名患者均具有典型的内侧FMD和局灶性内膜纤维化。结论：这些发现表明杂合的α1-抗胰蛋白酶缺乏可能是颈内动脉FMD发生的遗传危险因素。

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