ENFERMEDAD DE NIEMANN-PICK: UN ENFOQUE GLOBAL.

Diana Villamandos García, Alejandro Santos-Lozano

Resumen


Niemann-Pick (NP) es una enfermedad lisosomal transmitida por herencia autosómica recesiva que se caracteriza por la acumulación de esfingomielina, colesterol y otros lípidos en diferentes órganos causando alteraciones celulares y viscerales. La enfermedad se puede subdividir en cuatro tipos (A, B ,C y D) y los síntomas más comunes son la visceromegalia y la afectación neuronal. El tratamiento de NP es principalmente paliativo y busca demorar los síntomas y, con ello, la muerte. Sin embargo, la investigación de la enfermedad continúa progresando para conseguir un diagnóstico temprano y un tratamiento que consiga disminuir el avance de la enfermedad. 


Palabras clave


enfermedades raras; enfermedades de depósito lisosomal; enfermedades de depósito lisosomal, sistema nervioso.

Citas


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A MC Rosell. El que la conoció no pudo evitar enamorarse de ella.


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