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Medicina & Laboratorio

2023, Número 3

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Medicina & Laboratorio 2023; 27 (3)


Hemocromatosis: actualización clínica y diagnóstica

Arias-Agudelo LM, Mesa-Arango JA, Franco-Alzate C, Santiago-Pacheco V

Idioma: Español
Referencias bibliográficas: 54
Paginas: 229-244
Archivo PDF: 712.81 Kb.


RESUMEN

La hemocromatosis es un desorden en el cual la sobrecarga progresiva de hierro puede llevar a complicaciones sistémicas con gran morbimortalidad. Es una entidad clinicopatológica, con múltiples genes comprometidos y una fisiopatología común, con una expresión clínica y fenotípica variable, que depende de múltiples factores, tanto individuales como ambientales. Para su diagnóstico y seguimiento adecuado es necesario tener en cuenta elementos clínicos, bioquímicos y moleculares. En esta revisión, se presentan las generalidades de la hemocromatosis, además de sus mecanismos fisiopatológicos y moleculares, teniendo en cuenta su valor para el diagnóstico de la enfermedad. Adicionalmente, se describe la clasificación y un algoritmo diagnóstico propuestos recientemente por grupos de trabajo de expertos, así como las opciones de manejo y seguimiento de los pacientes con hemocromatosis.


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