Evaluación de las pruebas de laboratorio en el diagnóstico de la enfermedad de Wilson y sus manifestaciones clínicas
DOI:
https://doi.org/10.61347/ei.v4i2.227Palabras clave:
Diagnóstico, enfermedad de Wilson, manifestaciones clínicas, metabolismo del cobre, pruebas de laboratorioResumen
La enfermedad de Wilson (WD) es un trastorno hereditario poco frecuente del metabolismo del cobre, caracterizado por su acumulación progresiva en órganos como el hígado, el cerebro y la córnea, lo que genera manifestaciones clínicas heterogéneas que dificultan un diagnóstico temprano. En Ecuador, entre 2012 y 2022 se registraron únicamente 23 egresos hospitalarios con el código diagnóstico E83.0, lo que demuestra un importante subdiagnóstico y refuerza la necesidad de fortalecer las estrategias diagnósticas. El objetivo de esta revisión fue evaluar las principales pruebas de laboratorio empleadas en el diagnóstico de la enfermedad y analizar su relación con las manifestaciones clínicas reportadas. Se desarrolló una revisión sistemática con enfoque cualitativo y alcance descriptivo-analítico, siguiendo los lineamientos PRISMA 2020. La búsqueda se realizó en las bases de datos Scopus y PubMed, obteniéndose 330 estudios, de los cuales 24 cumplieron con los criterios de inclusión. Los resultados muestran que las pruebas tradicionales, como la ceruloplasmina sérica, el cobre sérico total, la excreción urinaria de cobre en 24 horas y los anillos de Kayser-Fleischer, continúan siendo pilares diagnósticos; sin embargo, presentan limitaciones en su precisión y variabilidad metodológica. Biomarcadores emergentes, como el cobre intercambiable (CuEXC), el índice REC, la pGFAP, la fetuin-A y determinados perfiles lipídicos y metabolómicos, demostraron mayor sensibilidad y especificidad, mejorando la capacidad diagnóstica, especialmente en presentaciones atípicas. Se confirma una correlación directa entre determinados biomarcadores y la severidad clínica, entre los que destacan la excreción urinaria de cobre en 24 horas (UCE 24 h), la disminución de la ceruloplasmina (Cp), el aumento del cobre no unido a ceruloplasmina (NCC/CuEXC), el cobre intercambiable relativo (REC), la pGFAP en casos con compromiso neurológico, la reducción de la fetuin-A, el incremento del cobre hepático y alteraciones específicas en el perfil de ceramidas. Estos biomarcadores permiten identificar la magnitud del daño orgánico y la progresión de la enfermedad, subrayando la relevancia de una interpretación integrada clínico-laboratorial para una evaluación precisa. Se concluye que ningún biomarcador aislado es suficiente para confirmar la enfermedad; por lo tanto, el enfoque diagnóstico debe ser multimodal, integrando pruebas bioquímicas, genéticas y clínicas.
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Derechos de autor 2025 Gabriela Lizeth Tituaña Caiza, Eliana Elizabeth Martínez Durán
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