El síndrome de Kartagener y su relación con las ciliopatías

Darian Francis Zubia; Zulema Ramírez Carmenate; Lucía González Núñez

El síndrome de Kartagener y su relación con las ciliopatías

Darian Francis Zubia, Zulema Ramírez Carmenate, Lucía González Núñez

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Resumen

Las ciliopatías se definen como un grupo de síndromes clínica y genéticamente heterogéneos, causadas por defectos en la formación y/o función de los cilios y se clasifican como ciliopatías móviles e inmóviles. El síndrome de Kartagener, enfermedad autosómica recesiva, es una ciliopatía móvil que integra un grupo de enfermedades denominadas discinesias ciliares primarias; se manifiesta clínicamente en edades tempranas de la vida por presentar susceptibilidad a padecer infecciones crónicas recurrentes del sistema respiratorio, situs inversus, e infertilidad en la adultez. El síndrome de Kartagener se presenta por mutaciones en algunos genes que codifican para las proteínas de los brazos de dineína externo e interno presentes en el axonema ciliar. En esta revisión de 28 referencias bibliográficas, se explica la relación morfofuncional y genética entre el síndrome de Kartagener y las ciliopatías.

Palabras clave

ciliopatías, discinesia ciliar primaria, síndrome de Kartagener, cilios móviles

Referencias

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