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Colegio de Medicos y Cirujanos República de Costa Rica

2012, Número 603

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Rev Med Cos Cen 2012; 69 (603)


Aspectos integrales de los defectos del ciclo de la urea

Torres FJ

Idioma: Español
Referencias bibliográficas: 45
Paginas: 379-386
Archivo PDF: 413.39 Kb.


RESUMEN

Los defectos del ciclo de la urea son un grupo de enfermedades de etiología genética que se caracterizan por hiperamonemia, alcalosis respiratoria y encefalopatía progresiva. La principal manifestación clínica es el daño neurológico, que es causado por el efecto tóxico de los altos niveles de amonio debido al bloqueo de alguno de los pasos del ciclo de la urea, el cual se lleva a cabo en el interior del hepatocito. La base de la terapia consiste en mantener el amonio dentro de los parámetros normales. El retraso en el diagnóstico y el tratamiento conducen a la muerte neonatal temprana.


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