Glueck C J, Glueck H I, Mieczkowski L, Tracy T, Speirs J, Stroop D
Cholesterol Center, Jewish Hospital, Cincinnati, Ohio 45229.
Thromb Haemost. 1993 May 3;69(5):460-5.
In a 29 year old white male with osteonecrosis of both hips and a shoulder, and in his family, we measured basal and stimulated (10 min cuff venous occlusion at 100 mgHg) fibrinolytic activity to determine whether low fibrinolytic activity might be heritable and etiologically associated with osteonecrosis. The proband's basal tPA-Fx was low, 0.08 IU/ml (normal 0.11-1.94), tPA-Ag was normal (11.6 ng/ml), plasminogen activator inhibitor activity (PAI-Fx) was very high, 119 U/ml (normal 3.5-27), as was his plasminogen activator inhibitor antigen (PAI-Ag), 202 ng/ml (normal 3.2-37.1). The proband's basal PAI-Fx (119) and PAI-Ag (202) were respectively 6 and 13 standard deviations greater than the mean PAI-Fx (17 +/- 15 U/ml) and the mean PAI-Ag (25 +/- 13 ng/ml) in 172 concomitantly studied hyperlipidemic men. Alpha-2 antiplasmin, fibrinogen, plasminogen and Lp(a) were normal. Despite lowering TG to 301 mg/dl, basal tPA-Fx remained low, 0.05; PAI-Fx and PAI-Ag remained very high (109 and 191). Following venous occlusion, stimulated tPA-Fx remained very low, 0.1 (normal 2.3-11.3), but tPA-Ag rose normally to 17 (normal 8.4-31.4); stimulated PAI-Fx and PAI-Ag were very high, 134 and 223, (normal PAI-Fx 3.6-24, PAI-Ag 12-96). Stimulated D-dimer was < the 10th percentile, 0.084 micrograms/ml. With such high PAI-Fx available to bind tPA, occlusion-stimulated tPA-Fx could not rise, and fibrinolysis could not be initiated. Neither diseases nor drugs could explain the high PAI-Fx and PAI-Ag, low tPA-Fx; or osteonecrosis.(ABSTRACT TRUNCATED AT 250 WORDS)
在一名患有双侧髋关节和一侧肩关节骨坏死的29岁白人男性及其家族中，我们测量了基础和刺激状态下（在100 mmHg压力下袖带静脉闭塞10分钟）的纤溶活性，以确定低纤溶活性是否具有遗传性以及是否与骨坏死存在病因学关联。先证者的基础组织型纤溶酶原激活物-纤维蛋白溶解活性（tPA-Fx）较低，为0.08 IU/ml（正常范围0.11 - 1.94），组织型纤溶酶原激活物抗原（tPA-Ag）正常（11.6 ng/ml），纤溶酶原激活物抑制剂活性（PAI-Fx）非常高，为119 U/ml（正常范围3.5 - 27），其纤溶酶原激活物抑制剂抗原（PAI-Ag）也是如此，为202 ng/ml（正常范围3.2 - 37.1）。先证者的基础PAI-Fx（119）和PAI-Ag（202）分别比172名同时研究的高脂血症男性的平均PAI-Fx（17 +/- 15 U/ml）和平均PAI-Ag（25 +/- 13 ng/ml）高出6和13个标准差。α2抗纤溶酶、纤维蛋白原、纤溶酶原和脂蛋白（a）均正常。尽管将甘油三酯降至301 mg/dl，但基础tPA-Fx仍较低为0.05；PAI-Fx和PAI-Ag仍然非常高（分别为109和191）。静脉闭塞后，刺激后的tPA-Fx仍然很低为0.1（正常范围2.3 - 11.3），但tPA-Ag正常升高至17（正常范围8.4 - 31.4）；刺激后的PAI-Fx和PAI-Ag非常高，分别为134和223（正常PAI-Fx 3.6 - 24，PAI-Ag 12 - 96）。刺激后的D - 二聚体低于第10百分位数，为0.084微克/毫升。由于有如此高的PAI-Fx可与tPA结合，闭塞刺激后的tPA-Fx无法升高，纤溶过程无法启动。疾病和药物都无法解释高PAI-Fx和PAI-Ag、低tPA-Fx以及骨坏死的情况。（摘要截断于250字）
