RESUMEN

La fibrosis quística es una enfermedad hereditaria, autosómica recesiva, causada por mutaciones en el gen de la proteína reguladora de conductancia de transmembrana de fibrosis quística (CFTR). A la fecha se han descrito más de 2,000 mutaciones o variantes en dicho gen. Históricamente el tratamiento de fibrosis quística estaba enfocado en el manejo clínico de las manifestaciones y complicaciones ocasionadas por la disfunción de dicha proteína. El descubrimiento del gen y de las mutaciones causantes de esta enfermedad ha permitido el desarrollo de fármacos conocidos como moduladores del CFTR que restauran y optimizan la función de la proteína defectuosa. El objetivo de esta publicación es llevar a cabo una revisión de estos nuevos medicamentos y su impacto sobre la función pulmonar, el estado nutricional, la calidad de vida y la supervivencia de los pacientes, constituyendo un ejemplo de medicina personalizada.

PALABRAS CLAVE

fibrosis quística, moduladores de conductancia de transmembrana de fibrosis quística, medicina personalizada.

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