In homozygous ZZ alpha-1-antitrypsin (AAT) deficiency large quantities of AAT mutant Z protein are synthesized in the liver, but the mutant Z protein folds improperly during biogenesis and is retained within the hepatocytes rather than appropriately secreted. The retained mutant Z protein is ...
Alpha-1抗胰蛋白酶缺乏症的英文名字是Alpha-1 antitrypsin deficiency。基因解码表明:Alpha-1抗胰蛋白酶缺乏症是一种遗传性疾病,与基因突变密切相关。 Alpha-1抗胰蛋白酶是一种由SERPINA1基因编码的蛋白质,它在肝脏中合成并通过血液循环分布到全身。该蛋白质的主要功能是抑制胰蛋白酶的活性,以保护肺部组织免受胰蛋白...
英文: Metabolic diseases such as Wilson\'s disease, hemochromatosis, and alpha 1 - antitrypsin deficiency can lead to liver damage.中文: 代谢性疾病,如威尔逊氏病,血色沉着,α-1型胰岛素缺乏症均可导致肝损伤。英文: Alpha 1-antitrypsin Matrix Attachment Region Enhances RNA PolymeraseⅡ-dependent ...
Quick recap ——In alpha-1 antitrypsin deficiency, the alveoli in the lungsvv are damaged by neutrophil elastase since there’s no alpha 1 antitrypsin to counter it, causing chronic obstructive pulmonary disease, and in the liver, misfolded alpha 1 antitrypsin builds up, killing hepatocytes and l...
Alpha-1 antitrypsin(抗胰蛋白酶)deficiency is a genetic disorder(遗传病)in which a protein called alpha-1antitrypsin is defective or absent, and it causes lung and liver disease. α抗胰蛋白酶缺乏症是一种遗传性疾病,患者体内的一种叫做α抗胰蛋白酶的蛋白质出现了问题或者含量减少了,最终导致肺和肝脏...
Alpha 1-antitrypsin deficiency is an inherited metabolic disorder that predisposes the affected individual to chronic pulmonary disease, in addition to chronic liver disease, cirrhosis, and hepatocellular carcinoma. Just over one-third of genetically susceptible adult patients with the most severe phenotype...
Alpha-1-antitrypsin (α1AT) is a glycoprotein synthesized by the liver (32, 18, 31, 1) which functions as an enzyme inhibitor. In vitro synthesis and release of α1AT has been demonstrated with the technique of short term liver cultures in the presence of radiolabeled amino acids (1). ...
Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD.This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical fin...
Alpha-1 antitrypsin deficiency is the commonest genetic condition leading to liver transplantation in childhood. It remains unclear why only a minority of individuals carrying homozygous PiZ phenotype has liver disease, but also why of those only about a quarter develops end stage liver disease, requ...
Alpha-1-antitrypsin (α1AT) is a protease inhibitor, the deficiency of which is associated with premature emphysema and a wide spectrum of liver disease. This protein is a small glycoprotein that migrates electrophoretically with the α1-globulin fraction of serum. Alpha-1-antitrypsin is a prot...