Alpha-1-antitrypsin MZ phenotype and cryptogenic chronic liver disease in adults. Digestion 1983;27:100-104.Vecchio FM, Fabiano A, Orsini G, Ragusa D, Massi G: Alpha-1-antitrypsin MZ phenotype and cryptogenic chronic liver disease in adults. Digestion 27:100–104, 1983...
α1-抗胰蛋白酶缺乏症(Alpha1-Antitrypsin Deficiency,AATD)是一种常染色体共显性遗传病,α1-抗胰蛋白酶(AAT)由肝脏细胞中的SERPINA1 基因编码并分泌到循环系统中,通过其抗蛋白酶活性保护肺组织。SERPINA1 基因突变(单个氨基酸突变Glu342Lys)会...
Arrowhead Pharmaceuticals前不久公布了正在进行的AROAAT2002研究(ARO-AAT,也称为TAK-999的开放标签2期临床研究)的额外中期临床数据,该公司的第二代研究性RNA干扰(RNAi)治疗药物,正在与武田制药有限公司共同开发,用于治疗与α-1抗胰蛋白酶缺乏症(alpha-1 antitrypsin de...
Relation of alpha-1-antitrypsin phenotype to the performance of pulmonary function tests and to the prevalence of respiratory illness in a working population. Individuals with severe alpha-1-antitrypsin (alpha1AT) deficiency (phenotype Pi ZZ) are abnormally liable to develop emphysema, but it is un...
A case of bile duct adenomas in association with heterozygous (MZ) deficiency of alpha 1-proteinase inhibitor (API) is presented. The salient features were the presence of large API-containing globules in the adenomatous tissue and only minimally, in granular form, in hepatocytes. alpha 1-Protein...
Kelly, J. KVasudev, K. SLee FI, Kelly JK, Vasudev KS (1983) Hepatic changes in a patient with alpha-l-antitrypsin deficiency (MZ phenotype). Portal tract elastosis and noncirrhotic portal hypertension. Arch Pathol Lab Med 107: 453–455...
alpha;1-Antitrypsin phenotypes were determined in 1,395 male Saskatchewan grain buyers. These included 1,254 type M, 80 MS, 35 MZ and 26 which were untyped or other rare phenotypes. Siblings and offspring of the MS men had a significantly greater number of deaths (p < 0.01). Of...
A patient is described with micronodular cirrhosis, partial (heterozygous, MZ) deficiency of alpha-1-antitrypsin (AAT) and hepatocellular carcinoma. The patient did not drink alcohol and all serological markers of infection with hepatitis B virus were absent. Death was due to intra-peritoneal ...
Association of alpha-1-antitrypsin phaenotype MZ with neonatal liver diseasedoi:10.1016/S0168-8278(88)80296-4NoneJournal of Hepatology
Alpha 1 antitrypsinLiver transplantLung diseaseAlpha-1 antitrypsin, also known as alpha1 proteinase inhibitor, is a protein 90% synthesized by hepatocytes. Alpha-1 antitrypsin deficiency should be suspected if patients have unexplained emphysema or liver disease in the absence of others recognized ...