Falla hepática aguda de probable etiología metabólica: Tirosinemia tipo I: Reporte de caso y revisión de la literatura
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https://doi.org/10.24054/cbs.v2i3.3094Palabras clave:
falla hepática aguda, tirosinemia, trasplante hepáticoResumen
Introducción: La falla hepática aguda es una enfermedad multisistémica infrecuente, pero potencialmente fatal, que se presenta en un niño previamente sano con rápida progresión a la disfunción hepática y falla severa de la síntesis. Las principales causas se pueden agrupar así: infecciosas, metabólicas (tirosinemia, galactosemia), fármacos, vasculares, hepatitis autoinmune, neoplasias e indeterminada. La tirosinemia tipo I (THI) es una enfermedad autosómica recesiva causada por la deficiencia de la enzima fumarilacetoacetato hidrolasa. La THI es una enfermedad rara, se calcula una frecuencia no mayor de 1 caso cada 100.000 recién nacidos vivos en la población mundial. Caso: paciente femenina de 5 años al ingreso con datos clínicos de falla hepática aguda de probable etiología metabólica por reporte de paraclínicos y anatomía patológica se sospechó de una Tirosinemia tipo I. Conclusiones: El tratamiento consiste en la administración de nitisinona y de forma simultánea se debe instaurar una dieta restringida en proteínas. El pronóstico está determinado por el riesgo de carcinoma hepatocelular que aumenta con el retraso del inicio del tratamiento.
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