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Colegio de Medicos y Cirujanos República de Costa Rica

2013, Number 605

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Rev Med Cos Cen 2013; 70 (605)

Deficiencia de α-1-antitripsina: Desorden monogénico más frecuente en la edad adulta

Flores-Ramos LG, Wegman-Ostrosky T, Torres-Flores J, Figuera LE

Language: Spanish
References: 36
Page: 95-102
PDF size: 318.82 Kb.


ABSTRACT

The deficiency of alpha-1-antitrypsin is the most common genetic disorder in western countries, with clinical presentation as severe pulmonary emphysema of early onset, liver cirrhosis and necrotizing panniculitis. Patients exhibit decreased serum levels of alpha-1-antitrypsin (A1AT), a protease inhibitor, whose function is to protect the connective tissue of the lungs from the proteolytic action of elastases. Gene mutations lead to conformational changes of A1AT, causing intracellular accumulation in liver tissue and decreased release into the bloodstream, with a subsequent protease: antiprotease imbalance, which damages lungs and liver. Replacement therapy, lung and liver transplantation are the treatment options currently available.


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