Department of Medicine, University of Florida, Gainesville, Florida, USA.
Clin Gastroenterol Hepatol. 2012 Jun;10(6):575-80. doi: 10.1016/j.cgh.2011.12.028. Epub 2011 Dec 23.
Alpha(1)-antitrypsin (A1AT) deficiency is an autosomal codominant disease that can cause chronic liver disease, cirrhosis, and hepatocellular carcinoma in children and adults and increases risk for emphysema in adults. The development of symptomatic disease varies; some patients have life-threatening symptoms in childhood, whereas others remain asymptomatic and healthy into old age. As a result of this variability, patients present across multiple disciplines, including pediatrics, adult medicine, hepatology, genetics, and pulmonology. This can give physicians the mistaken impression that the condition is less common than it actually is and can lead to fragmented care that omits critical interventions commonly performed by other specialists. We sought to present a rational approach for hepatologists to manage adult patients with A1AT deficiency.
α1-抗胰蛋白酶（A1AT）缺乏症是一种常染色体共显性遗传疾病，可导致儿童和成人的慢性肝病、肝硬化和肝细胞癌，并增加成人肺气肿的风险。症状性疾病的发展存在差异；一些患者在儿童期就出现危及生命的症状，而另一些患者则无症状，健康状况一直持续到老年。由于这种可变性，患者会涉及多个学科，包括儿科、成人医学、肝脏病学、遗传学和肺病学。这可能会给医生一种错误的印象，即这种疾病比实际情况罕见，并导致护理不完整，遗漏了其他专家通常进行的关键干预措施。我们旨在为肝病学家提供一种合理的方法来管理 A1AT 缺乏症的成年患者。
