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.

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Deficiencia de alfa-1-antitripsina








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