α1抗胰蛋白酶Pittsburg突变：同一家系二例报告  

α1-antitrypsin Pittsburg mutations： report of two cases in the same family

作　　者：曹丽娟[1] 白霞[1] 余自强[1] 张威[1] 苏健[1] 王兆钺[1] 阮长耿[1] 

机构地区：[1]苏州大学附属第一医院、江苏省血液研究所,215006

出　　处：《中华血液学杂志》2017年第11期968-971,共4页Chinese Journal of Hematology

摘　　要：目的分析2例α1抗胰蛋白酶（α1-AT）Pittsburg突变患者的临床和实验室特点。方法采用凝固法或发色底物法分别检测凝血时间及凝血因子活性；比浊法测定血小板聚集功能；采用毛细管电泳法测定血清蛋向；PCR扩增目的DNA片段并测序检测突变。结果先证者，女，34岁，多次术后出血及黄体破裂出血；女儿，10岁，无出血表现。两例患者APTT、凝血酶时间均明碌延长且正常人混和血浆1：1不能纠正，凝血因子Ⅸ、Ⅹ、Ⅺ、Ⅻ活性明显降低，蛋白C、蛋白S活性均为0，1U／ml凝血酶诱导的的血小板聚集降低，4U／ml凝血酶诱导的血小板聚集为48％；血清α1球蛋白电泳条带异常；DNA测序结果显示两例患者的α1-AT基因（NG008290．1）均存在g．T17132G（p．Met358Arg）杂合突变。结论α1-ATPittsburg突变患者表现出明显的凝血异常，临床出血表现有较大的差异性，黄体破裂“：血可能是女性患者的一个明显特仟。Objective To analyze the clinical and laboratory abnormalities of two patients with ctl-antitrypsin （ctl-AT） Pittsburgh in a family and review the literatures. Methods Both plasma clotting time and factor activities were performed using clotting or substrate methods. Platelet aggregation was evaluated using an optical aggregometer. The serum protein electrophoresis was performed on Sebia HYDRASYS by using Agarose gel. The exons of α1-AT were amplified by using polymerase chain reaction （PCR） and then sequenced and compared with NCBI GenBank records. Results The proband had several ruptures of corpus luteum and bleeding after operation, while her daughter had no bleeding history. Both of them showed prolonged coagulation tests which could not be corrected by mixing with the normal plasma. They also showed low levels of plasma coagulation factors, undetected protein C and S activity and abnormal bands of α1-globulin. The results of gene sequencing demonstrated that they were heterozygous for g.T17132G （p.Met358Arg） mutation of α1-antitrypsin gene （NG_008290.1）. Conclusions Comparing with the data of previously reported cases, our results confirmed the obvious abnormality of coagulation test and the discrepancy of bleeding tendency of α1-antitrypsin Pittsburgh patients, and suggested that the rupture of corpus luteum would be a specific characteristic in women of child-bearing age.

关 键 词：出血 凝血异常 Α1抗胰蛋白酶 基因 Pittsburg突变 

分 类 号：R552[医药卫生—血液循环系统疾病]