La principal variante deficitaria es la PiZ. Alphaantitrypsin deficiency AATD is the main genetic factor related to the development of emphysema. This protein has numerous variants, some of which are clinically relevant because their anomalous conformation implies that they fail to reach the target organs as they are polymerized in the hepatocyte. The main abnormal variant is PiZ. In a small percentage of individuals, the accumulation of Z polymers in the liver leads to the development of liver disease. The lack of AATD in the lung favors the development of emphysema, since the proteolytic effect of elastases — the main biological function of AATD — is not counteracted.
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Deficiencia de alfa-1-antitripsina
Como consecuencia del exceso de proteasas las paredes alveolares son destruidas y causa enfisema. Are free A-1 tests available? Are serum level tests available? Are genotyping tests available? T here are labs that can make genotyping tests. But since these tests are not required or taken very often, it is much more economic for the lab to send it to Spain than making it here. But we have done interviews with the lab and they have the knowledge and the tools required to do this kind of tests.
Deficiencia de Alfa-1 Antitripsina