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Colegio de Medicos y Cirujanos República de Costa Rica

2013, Número 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

Idioma: Español
Referencias bibliográficas: 36
Paginas: 95-102
Archivo PDF: 318.82 Kb.


RESUMEN

La deficiencia de alfa-1-antitripsina es el padecimiento genético más frecuente en países occidentales, se presenta clínicamente como enfisema pulmonar severo de aparición temprana, cirrosis hepática y paniculitis necrotizante. Los pacientes afectados exhiben niveles séricos disminuidos de alfa-1-antitripsina (A1AT), un inhibidor sérico de proteasa, cuya función es proteger al tejido conectivo pulmonar de la acción proteolítica de las elastasas. Mutaciones en el gen que codifica para esta proteína modifican su conformación terciaria, lo que provoca su acúmulo intracelular en el tejido hepático y la disminución de su liberación al torrente sanguíneo, causando un desbalance proteasa:antiproteasa, que daña a los tejidos pulmonar y hepático. La terapia sustitutiva y el transplante de pulmón e hígado son las opciones terapéuticas disponibles actualmente.


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