Tips for Those Newly Diagnosed with Alpha 1 Feelings of isolation can be common among people diagnosed with a rare disease. But Dee Kroecker, who is living with the rare genetic condition Alpha 1 Antitrypsin Deficiency, wants newly diagnosed patients to know that they are not alone. ...
网络抗胰蛋白酶缺乏 网络释义 1. 抗胰蛋白酶缺乏 α1-抗胰蛋白酶缺乏(alpha-l-antitrypsin deficiency)是一种伴有慢性肝脏病变的常染色体隐性遗传疾病,在儿童代谢性疾病中最为 … www.transplantation.org.cn|基于 1 个网页
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 (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 ...
Alpha-1 Antitrypsin Deficiency (A1AD) is a hereditary condition characterized by low levels of circulating alpha-antitrypsin (AAT) in plasma. It is the best understood genetic risk factor for the development of chronic obstructive pulmonary disease (COPD). The diagnosis of A1AD is under-recognized...
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
Alpha-1-antitrypsinProteaseAntiproteaseLiver diseaseChronic obstructive pulmonary disease (COPDTwo disparate disease states—an adult form of emphysema and a childhood form of liver cirrhosis—have been linked to an inherited absence of this antienzyme. In their severe, homozygous forms, both conditions...
Seven persons with homozygous deficiency of alpha1 antitrypsin and 23 related family members were studied. It was possible to differentiate homozygous deficient, heterozygous, and normal persons by determination of total trypsin inhibitory capacity of the serum and immunodiffusion of serum in variable dil...
The liver in adolescents with alpha 1-antitrypsin deficiency. Of 200,000 Swedish infants screened for alpha 1-antitrypsin deficiency (alpha 1 ATD), 184 (127 PiZ, 2 PiZ-, 54 PiSZ, and 1 PiS-) children have been followed prospectively, of whom 1 PiSZ and 5 PiZ children died in early chi...
Alpha-1-antitrypsin (±1-AT) deficiency is a well known cause of emphysema in adults. A subgroup of deficient individuals develops liver injury during infancy and childhood. In fact, it is the most common genetic cause of liver disease in children. Although lung injury is due to the ...