Arima T, Motomura M, Nishiura Y, Tsujihata M, Okajima K, Abe H, Nagataki S
First Department of Internal Medicine, Nagasaki University Medical School, Japan.
Stroke. 1992 Dec;23(12):1822-5. doi: 10.1161/01.str.23.12.1822.
We report a heterozygous case of familial qualitative deficiency of antithrombin III associated with cerebral infarction.
A 33-year-old man had a history of recurrent transient ischemic attacks from the age of 28. Cerebral computed tomography at age 29 disclosed a low-density area in the left frontal lobe, and an internal carotid angiogram showed branch occlusion of the right anterior cerebral artery and stenosis of the left middle cerebral artery. Occlusion of the right middle cerebral artery developed thereafter. The plasma antithrombin III antigen concentration and progressive antithrombin activity were normal, but plasma heparin cofactor activity was low in the patient and his father. Nucleotide sequence analysis of the proband's deoxyribonucleic acid showed no mutation in exons II and VI of antithrombin III.
We conclude that abnormal antithrombin III with defective heparin binding, even though heterozygous, may cause ischemic stroke in young adults. We named this antithrombin III variant "Antithrombin III Nagasaki."
我们报告了1例与脑梗死相关的家族性抗凝血酶III质量缺陷杂合病例。
一名33岁男性自28岁起有反复发作短暂性脑缺血发作病史。29岁时脑部计算机断层扫描显示左额叶有低密度区，颈内动脉血管造影显示右大脑前动脉分支闭塞和左大脑中动脉狭窄。此后右大脑中动脉发生闭塞。患者及其父亲的血浆抗凝血酶III抗原浓度和抗凝血酶活性正常，但血浆肝素辅因子活性较低。先证者脱氧核糖核酸的核苷酸序列分析显示抗凝血酶III的外显子II和VI无突变。
我们得出结论，即使是杂合状态，具有肝素结合缺陷的异常抗凝血酶III也可能导致年轻成年人发生缺血性卒中。我们将这种抗凝血酶III变异体命名为“长崎抗凝血酶III”。
