AAT, alpha-1 antitrypsin; Pi∗MZ, AAT genotype with heterozygosity for the Pi∗Z variant; Pi∗SS, AAT genotype with homozygosity for the Pi∗S variant; Pi∗SZ, AAT genotype with compound heterozygosity for the Pi∗Z and Pi∗S variants; Pi∗ZZ, AAT genotype with homozygosity ...
Alpha 1-antitrypsin is an antiprotease found in human plasma that inhibits the neutrophil elastase enzyme from degrading elastin tissues in the lung. Alpha-1-antitrypsin (AAT) deficiency is a hereditary disorder associated with the early onset of severe pulmonary emphysema in adults. Although alpha ...
The decline in circulating AAT levels is the hallmark of alpha-1 antitrypsin deficiency (AATD). This rare genetic disorder, which affects approximately 1 in 2500 individuals, is characterized by the production of an altered AAT protein, resulting in its retention within liver tissue. The ...
Alpha-1 antitrypsin deficiency associated liver disease (AATD-LD) is a rare genetic disorder and not well-recognized. Predicting the clinical outcomes of AATD-LD and defining patients more likely to progress to advanced liver disease are crucial for better understanding AATD-LD progression and promoti...
1-antitrypsin deficiency (disorder), alpha-1-Antitrypsin deficiency (disorder), alpha-1-Antitrypsin deficiency, Alpha-1-antitrypsin deficiency, Alpha-1 anti-trypsin deficiency, Alpha-1 proteinase inhibitor deficiency, Alpha-1-antitrypsin def, A-1ATD, A1AD, AAT deficiency, alpha 1-Antitrypsin ...