Köhnlein T, Rifai K
Klinik für Pneumologie, Medizinische Hochschule Hannover, Hannover, Deutschland.
Internist (Berl). 2010 Mar;51 Suppl 1:269-76. doi: 10.1007/s00108-009-2505-9.
Alpha(1)-antitrypsin deficiency is characterized by a pathologic reduction of the serum concentration of alpha(1)-antitrypsin, the most important antiprotease in man. It is one of the most common hereditary diseases in Caucasians. Approximately 2% of obstructive airway diseases are caused by alpha(1)-antitrypsin deficiency. Patients above 35 years may develop lung emphysema, especially in the lower lobes. Symptoms are those of chronic obstructive pulmonary disease such as cough, sputum expectoration, and progressive dyspnoea. Patients with homozygous defect often develop cholestatic hepatitis in the neonatal period. However, only few adult patients develop chronic liver disease up to liver cirrhosis with an elevated risk for malignant liver tumors. The diagnostic hallmark is the reduced serum concentration of alpha(1)-antitrypsin while genetic testing proves the defect. An early recognition of the disease is decisive for prophylactic and therapeutic measures. Smoking should be stopped immediately. Treatment of lung disease includes physiotherapy, antiobstructive and antiinflammatory medication, augmentation with human alpha(1)-antitrypsin and lung surgery including lung transplantation. Liver toxins should be avoided. Besides experimental therapeutic approaches, liver disease can only be treated by liver transplantation.
α1-抗胰蛋白酶缺乏症的特征是血清中α1-抗胰蛋白酶（人体最重要的抗蛋白酶）浓度病理性降低。它是白种人中最常见的遗传性疾病之一。约2%的阻塞性气道疾病由α1-抗胰蛋白酶缺乏症引起。35岁以上的患者可能会出现肺气肿，尤其是在下叶。症状为慢性阻塞性肺疾病的症状，如咳嗽、咳痰和进行性呼吸困难。纯合子缺陷患者在新生儿期常发生胆汁淤积性肝炎。然而，只有少数成年患者会发展为慢性肝病直至肝硬化，患恶性肝肿瘤的风险增加。诊断的标志是α1-抗胰蛋白酶血清浓度降低，而基因检测可证实缺陷。疾病的早期识别对预防和治疗措施至关重要。应立即戒烟。肺部疾病的治疗包括物理治疗、抗阻塞和抗炎药物治疗、用人α1-抗胰蛋白酶补充治疗以及包括肺移植在内的肺部手术。应避免接触肝毒素。除了实验性治疗方法外，肝病只能通过肝移植治疗。
