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Colegio de Medicos y Cirujanos República de Costa Rica

2015, Número 614

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Rev Med Cos Cen 2015; 72 (614)


Diabetes mellitus y atrofia óptica: la clave del diagnóstico del sindrome de Wolfram

Gil-Collado M

Idioma: Español
Referencias bibliográficas: 27
Paginas: 167-173
Archivo PDF: 74.87 Kb.


RESUMEN

El Síndrome de Wolfram es una enfermedad neurodegenerativa y multisistémica llamada DIDMOAD por las siglas en inglés de sus principales manifestaciones: Diabetes Insípida, Diabetes Mellitus, Atrofia Óptica y Sordera. Se debe a una mutación en una proteína del retículo endoplásmico llamada wolframina. La detección temprana de esta patología y la prevención de sus complicaciones, son la clave para el tratamiento ya que a pesar de que existen estudios recientes que han demostrado avances prometedores con sustancias como el ácido 4-fenil butírico, aún no se conoce una cura.


REFERENCIAS (EN ESTE ARTÍCULO)

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