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2014, Número 4

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Rev Mex Pediatr 2014; 81 (4)


Enfoque simplificado para el diagnóstico de enfermedades lisosomales en niños

Carbajal RL, Rodríguez HR, Zarco RJ, Perea MA, Copto GA

Idioma: Español
Referencias bibliográficas: 94
Paginas: 143-153
Archivo PDF: 140.89 Kb.


RESUMEN

En el mundo se han identificado más de 50 enfermedades por depósito lisosomal, las que aproximadamente ocurren como grupo en 1 de 5,000 nacidos vivos. Muestran una patogénesis común, un defecto genético en una o varias enzimas lisosomales específicas, dando lugar a una deficiente actividad enzimática. Los lisosomas en los macrófagos tienen hidrolasas ácidas que reducen las macromoléculas en pequeñas partículas para ser recicladas o eliminadas del cuerpo; si no se eliminan cabalmente se acumulan interfiriendo en la actividad celular normal a diferentes niveles, pudiendo ocasionar una posible muerte celular. Los tipos diferentes de sustratos acumulados en diversas células del cuerpo producen alteraciones en diferentes órganos con gran variabilidad en la expresión clínica. La evolución de estas enfermedades es crónica y progresiva, depende de la cantidad de sustrato acumulado, así como también su pronóstico es con relación al tiempo en que se hace el diagnóstico y se inicia el tratamiento; es por eso necesario que haya un entendimiento adecuado de estas enfermedades: consideradas «raras», progresivas, incurables y mortales.


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