Palabras clave
hipofosfatemia
factor de crecimiento de fibroblastos-23
diagnóstico
terapéutica
consenso
Cómo citar
Resumen
Introducción: el raquitismo hipofosfatémico ligado al cromosoma X es una enfermedad hereditaria que provoca alteraciones en la homeostasis mineral ósea. La morbilidad de este cuadro ha mostrado variabilidad en décadas anteriores e incluso contradicciones, posiblemente debido a la definición del caso y la confirmación diagnóstica.
Objetivo: elaborar recomendaciones fundamentadas en evidencia para el diagnóstico, tratamiento y seguimiento de pacientes con sospecha o diagnóstico de XLH.
Metodología: revisión de la literatura y consenso de expertos mediante el método Delphi modificado.
Resultados: después de llevar a cabo el proceso de tamización y selección de 1,041 documentos, se incorporaron 41 para abordar las preguntas planteadas por el grupo desarrollador. Se obtuvieron 97 recomendaciones sobre el diagnóstico, tratamiento y seguimiento de pacientes con sospecha o diagnóstico de XLH, las cuales fueron aprobadas por expertos consultados mediante un consenso Delphi modificado. Cabe destacar que la calidad de la evidencia fue baja.
Conclusiones: las recomendaciones propuestas aquí posibilitarán el diagnóstico temprano y oportuno del raquitismo hipofosfatémico ligado al cromosoma X. Al mismo tiempo, optimizarán la asignación de recursos destinados a su tratamiento y seguimiento, contribuyendo así a dilucidar la carga de enfermedad y a mejorar los resultados de salud en esta población.
Citas
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