α1-抗胰蛋白酶缺乏症1例并文献复习

摘要

报道1例以黄疸为表现的α1-抗胰蛋白酶缺乏症病例,该例患者初始起病以黄疽为表现,病程10年,通过肝活检组织病理确诊.结合文献对α1-抗胰蛋白酶缺乏症的流行病学现状、病因机制、临床表现及治疗预后加以复习,藉此对临床遗传性肝病的诊治提供参考.%A case of alpha 1 antitrypsin deficiency with jaundice as manifestation was reported. The patient initially presented with jaundice, and 10 years later, it was diagnosed by the liver biopsy pathology. We will review the epidemiology, etiology, clinical manifestations, treatment and prognosis of alpha 1 antitrypsin deficiency combined with the literatures, so that we can provide reference to the clinical diagnosis and treatment of hereditary liver disease.