Schievink W I, Björnsson J, Parisi J E, Prakash U B
Department of Neurologic Surgery, Mayo Clinic Rochester, MN 55905.
Mayo Clin Proc. 1994 Nov;69(11):1040-3. doi: 10.1016/s0025-6196(12)61369-x.
To elucidate the putative arteriopathy associated with alpha 1-antitrypsin (alpha 1-AT) deficiency.
We retrospectively studied the frequency of occurrence of fibromuscular dysplasia (FMD) in patients with alpha 1-AT deficiency in whom a postmortem examination had been done during a 10-year period at the Mayo Clinic.
The medical records of all patients in whom an autopsy was done at the Mayo Clinic between 1983 and 1992 were reviewed to identify all those with a diagnosis of alpha 1-AT deficiency or FMD.
Arterial FMD was found in 2 of 6 patients with alpha 1-AT deficiency (33.3%; 95% confidence interval, 4.3 to 77.7%) in comparison with 23 of 6,690 patients without alpha 1-AT deficiency (0.3%; 95% confidence interval, 0.2 to 0.5%). In both patients with alpha 1-AT deficiency and FMD, the arterial media was thickened and composed of irregular arrays of muscular and connective tissue fibers in a background of mucoid ground substance.
These findings provide further evidence for an underlying arteriopathy in patients with alpha 1-AT deficiency and suggest that FMD may be a non-specific disorder.
阐明与α1-抗胰蛋白酶（α1-AT）缺乏相关的假定动脉病变。
我们回顾性研究了梅奥诊所10年间进行尸检的α1-AT缺乏患者中纤维肌发育不良（FMD）的发生频率。
回顾了1983年至1992年间在梅奥诊所进行尸检的所有患者的病历，以确定所有诊断为α1-AT缺乏或FMD的患者。
6例α1-AT缺乏患者中有2例发现动脉FMD（33.3%；95%置信区间，4.3%至77.7%），而6690例无α1-AT缺乏患者中有23例（0.3%；95%置信区间，0.2%至0.5%）。在α1-AT缺乏且患有FMD的两名患者中，动脉中膜增厚，由粘液样基质背景下不规则排列的肌肉和结缔组织纤维组成。
这些发现为α1-AT缺乏患者潜在的动脉病变提供了进一步证据，并表明FMD可能是一种非特异性疾病。
