Description
Alpha-1 antitrypsin deficiency (AATD) is a hereditary autosomal recessive disease caused by a reduced concentration of alpha-1 antitrypsin (AAT) in blood serum, arising from various mutations in the Pi gene. It manifests as chronic nonspecific lung diseases with the development of emphysema, as well as liver and vascular damage. In 95% of cases, patients with AATD are found to have pathological, clinically significant Z or S alleles in the SERPINE1 gene. Accumulation of aberrant AAT protein in hepatocytes leads to cytolytic syndrome, liver fibrosis and cirrhosis, as well as an increased risk of developing hepatocellular carcinoma.
Period of execution
Within 11 days. The specified time does not include the day of biomaterial collection
Biomaterial type