α1-抗胰蛋白酶缺乏症1例并文献复习

A case of alpha 1 antitrypsin deficiency and literature review

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疸为表现,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 jaun- dice, 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 diagno- sis and treatment of hereditary liver disease.