学龄期男孩反复出血倾向

Recurrent bleeding tendency in a school-aged boy

摘要:

该文报道1 例α1 抗胰蛋白酶Pittsburgh 突变患儿。患儿男,因反复膝关节血肿就诊,凝血功能检查提示凝血活酶时间、部分凝血活酶时间均延长,1:1 血浆纠正试验仅能部分纠正,凝血因子Ⅷ抑制物、抗心磷脂抗体、狼疮抗凝物为阴性,凝血酶诱导的血小板聚集试验提示血液中存在凝血酶抑制物,基因检测证实为Pittsburgh 突变导致α1 抗胰蛋白酶突变。该文结合文献,总结和分析了α1 抗胰蛋白酶Pittsburgh 突变所导致出血的临床特点、诊断和治疗。

Abstract:

The study reports a boy with alpha1-antitrypsin Pittsburgh mutation. The boy was admitted into the hospital because of recurrent joint hematoma. The laboratory examinations revealed that prothrombin time and activated partial thromboplastin time were prolonged and cannot be corrected by 1:1 fresh plasma. The inhibitor of factor VIII, anticardiolipin antibody and lupus anticoagulant were all negative. Platelet aggregation test indicated the existence of the inhibitor of thrombin. Alpha1-antitrypsin Pittsburgh mutation was confirmed by genomic sequencing. The clinical manifestations, diagnosis and treatment of this disorder are discussed in this paper.