Fargion S, Bissoli F, Fracanzani A L, Suigo E, Sergi C, Taioli E, Ceriani R, Dimasi V, Piperno A, Sampietro M, Fiorelli G
Istituto di Medicina Interna e Fisiopatologia Medica Università di Milano, Ospedale Maggiore Policlinico IRCCS, Italy.
Hepatology. 1996 Nov;24(5):1161-4. doi: 10.1002/hep.510240530.
Genetic hemochromatosis and alpha1-antitrypsin (AAT) deficiency are frequent in white populations. Conflicting data on the association of the two conditions and on the severity of the disease in those in whom these disorders coexist have emerged from analyses of small numbers of patients. To determine if the frequency of AAT deficiency is increased in genetic hemochromatosis, we characterized this protein by isoelectric focusing and DNA analysis in 115 Italian patients with the disease and 290 controls. The frequency of AAT deficiency in patients with genetic hemochromatosis was similar to that in controls (10% and 9%, respectively). The prevalence of cirrhosis in patients with genetic hemochromatosis with MM phenotype was 53%, compared with 58% in those with non-MM phenotype; that of hepatocellular carcinoma, occurring only in cirrhotic patients, was 22% and 28%, respectively. In conclusion, the frequency of AAT deficiency was not increased in our large series of Italian patients with genetic hemochromatosis. Patients in whom the two defects coexisted did not appear to have a more severe disease, but the limited number of subjects with non-MM phenotype does not allow a conclusive evaluation of clinical differences between them and patients with genetic hemochromatosis with MM phenotype.
遗传性血色素沉着症和α1 -抗胰蛋白酶（AAT）缺乏症在白种人群中很常见。对少数患者的分析得出了关于这两种病症之间关联以及这两种疾病共存患者疾病严重程度的相互矛盾的数据。为了确定遗传性血色素沉着症患者中AAT缺乏症的发生率是否增加，我们通过等电聚焦和DNA分析对115名意大利遗传性血色素沉着症患者及290名对照者的这种蛋白质进行了特征分析。遗传性血色素沉着症患者中AAT缺乏症的发生率与对照组相似（分别为10%和9%）。MM表型的遗传性血色素沉着症患者中肝硬化的患病率为53%，非MM表型患者中为58%；仅在肝硬化患者中出现的肝细胞癌的患病率分别为22%和28%。总之，在我们大量的意大利遗传性血色素沉着症患者中，AAT缺乏症的发生率并未增加。两种缺陷共存的患者似乎并没有更严重的疾病，但非MM表型的受试者数量有限，无法对他们与MM表型的遗传性血色素沉着症患者之间的临床差异进行确凿评估。
