Alpha-1 antitrypsin deficiency. Sequencing of the SERPINA1 gene [1 gene]

Alpha-1 antitrypsin deficiency is a codominant autosomal inheritance disease produced by mutation sin the SERPINA1 gene. DAAT affects 1/1,500-3,000 individuals with European ancestry and is considered a disease with an important infradiagnosis. The decrease or dysfunction of the resulting protein, whose fundamental function is the enzymatic inhibition of the produced proteases by the inflammatory cells, results in tissue damage. The most frequent clinical manifestation is pulmonary lesion (emphysema, bronchiectasis, COPD), followed by hepatic affectation (chronic hepatitis, hepatic cirrhosis, and liver cancer) and, less frequently, vasculitis, panniculitis, inflammatory bowel disease, intracranial and abdominal aneurysm, fibromuscular dysplasia, and glomerulonephritis. At least 150 alleles have been described in association with AAT deficiency, localized all along the gene. In clinical practice, the risk of presenting diseases is associated to the ZZ phenotypes is 96% while the remaining 4% is associated to rare deficient variants, generically called M- and S-like, and to the extremely rare null phenotypes. Up to 60% of ZZ individuals may develop chronic obstruction of the air flow and the most important risk factor associated is the degree of smoking.