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
Diagnosis of alpha-1 antitrypsin deficiency often begins with a chest X-ray or Chest CTto look for hyperinflated(过度膨胀)lungs or evidence of damaged lung tissue. 一般诊断的话肺就看胸片或者CT,或者找到一些肺损伤的证据 In addition, pulmonary function testing can be used to measure how quickly ...
Alpha-1 Antitrypsin Deficiency: Current Perspective from Genetics to Diagnosis and Therapeutic ApproachesAlpha-1 antitrypsinchronic obstructive pulmonarydiseasegenetic variantsliver diseaseneutrophil elastasepolymersserine protease inhibitor superfamily (SERPIN)...
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder associated with the development of liver and lung disease. AAT is a 52-kD glycoprotein, produced mainly by hepatocytes and secreted into the blood. Agglomeration of the AAT-protein in hepatocytes can result in liver disease. ...
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 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...
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. ...
Clinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiencyClinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiencyINTRODUCTION -- Alpha-1 antitrypsin (AAT) deficiency is a clinically under-recognized inherited disorder affecting the lung, liver,...
ALPHA 1 ANTITRYPSIN DEFICIENCY IN THE PATHOGENESIS (OF BRONCHOPULMONARY DYSPLASIABronchopulmonary Dysplasia (BPD) is a major cause of neonatal respiratory morbidity and mortality. The pathophysiology of BPD may be related to an absence of the antiprotease alpha 1 anti-trypsin (αLat) in pulmonary ...
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...