CONGENITAL DEFICIENCY OF ALPHA-2-PLASMIN INHIBITOR ASSOCIATED WITH SEVERE HEMORRHAGIC TENDENCY
CONGENITAL DEFICIENCY OF ALPHA-2-PLASMIN INHIBITOR ASSOCIATED WITH SEVERE HEMORRHAGIC TENDENCY
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DOI：
10.1172/jci109387
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发表时间：
1979-01-01
影响因子：
15.9
通讯作者：
KOBAKURA, M
中科院分区：
文献类型：
--
作者：
AOKI, N;SAITO, H;KOBAKURA, M
α 2-纤溶酶抑制剂（α 2 PI）是最近表征的人血浆中的快速反应纤溶酶抑制剂，其似乎在体内纤维蛋白溶解的调节中起重要作用。报道了一个人α 2 PI完全缺乏的病例。该患者是一名25岁的日本男性，有终身严重出血倾向（关节积血和创伤后出血过多）。以下检查结果均在正常范围内：血小板计数、出血时间、凝血酶时间、凝血酶原时间、部分凝血活酶时间、已知凝血因子滴度、血小板玻璃珠滞留、凝血因子VIII相关抗原、ADP、胶原蛋白和利托那肽引起的血小板聚集以及凝块收缩。常规肝功能检查也正常。唯一的异常发现是全血凝块溶解非常迅速，在4-8小时内完全溶解。血浆蛋白酶抑制剂，包括α 2-巨球蛋白、抗凝血酶III、α 1-抗胰蛋白酶和C.hivin.1INH [C.hivin.1I酯酶抑制剂]的浓度均正常。通过免疫学方法测定，患者血浆中α 2-PI的浓度< 0.1 mg/100 ml（正常浓度，6.1 ±。0.88 mg/100 ml [平均值±. SE]）和功能测定显示α 2 PI完全缺乏。向患者全血中加入纯化的α 2 PI完全纠正了加速的纤维蛋白溶解。该患者的父母、4个兄弟姐妹和该家族的4个其他成员无症状，但他们血浆中α 2 PI的滴度为约。正常合并血浆的50%。在这个家族中有3次近亲婚姻，α 2 PI缺乏似乎是作为常染色体隐性性状遗传的。该患者中的α 2 PI缺乏可能导致体内纤维蛋白溶解不受抑制，这可能导致严重的出血倾向。表明了α 2 PI在止血中的重要作用。
.alpha.2-Plasmin inhibitor (.alpha.2PI) is a recently characterized, fast-reacting plasmin inhibitor in human plasma that appears to play an important role in regulation of in vivo fibrinolysis. A case of complete deficiency of .alpha.2PI in man is reported. The patient, a 25 yr old Japanese man, had a life-long severe bleeding tendency (hemarthrosis and excessive bleeding after trauma). The following tests were within normal limits: platelet count, bleeding time, thrombin time, prothrombin time, partial thromboplastin time, titers of known clotting factors, platelet glass bead retention, Factor VIII-related antigen, platelet aggregation by ADP, collagen and ristocetin and clot retraction. Routine liver function tests were also normal. The only abnormal finding was that whole blood clot lysis was extemely rapid and was complete in 4-8 h. The concentration of plasma protease inhibitors, including .alpha.2-macroglobulin, antithrombin III, .alpha.1-antitrypsin, and C.hivin.1INH [C.hivin.1I esterase inhibitor] were all normal. The concentration of .alpha.2-PI in the patient''s plasma, assayed by immunological methods, was < 0.1 mg/100 ml (normal concentration, 6.1 .+-. 0.88 mg/100 ml [mean .+-. SE]) and functional assays showed a complete deficiency of .alpha.2PI. Addition of purified .alpha.2PI to the patient''s whole blood completely corrected the accelerated fibrinolysis. The patient''s parents, 4 siblings, and 4 other members of this family were asymptomatic, but the titers of .alpha.2PI in their plasmas were .apprx. 50% of normal pooled plasma. There were 3 consanguineous marriages in this family, and the .alpha.2PI deficiency appears to have been inherited as an autosomal recessive trait. .alpha.2PI deficiency in this patient has probably led to uninhibited in vivo fibrinolysis that probably causes the severe hemorrhagic tendency. The important role of .alpha.2PI in hemostasis indicated.