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Rachitismo refractario: evaluación y manejo

Sriram Krishnamurthy1

  • 1Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India. drsriramk@yahoo.com.

Indian journal of pediatrics
|February 25, 2026
PubMed
Resumen
Este resumen es generado por máquina.

El raquitismo refractario, no sensible a la vitamina D, presenta un desafío diagnóstico en niños. Un enfoque algorítmico que utiliza pruebas bioquímicas y secuenciación de próxima generación (NGS) ayuda en el diagnóstico preciso y la terapia dirigida para esta afección.

Palabras clave:
enfermedad renal crónicaacidosis tubular renal distalsíndrome de Fanconiraquitismo hipofosfatémicoraquitismo refractarioraquitismo dependiente de vitamina D

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Área de la Ciencia:

  • Nefrología Pediátrica
  • Endocrinología
  • Genética

Sus antecedentes:

  • El raquitismo refractario se caracteriza por la falta de respuesta a la terapia estándar con vitamina D.
  • Diversas enfermedades renales hereditarias y adquiridas, incluido el trastorno mineral óseo asociado a la enfermedad renal crónica (ERC), pueden causar raquitismo refractario.
  • La hipofosfatemia es un hallazgo común tanto en el raquitismo calcipénico como en el fosfopénico.

Objetivo del estudio:

  • Esbozar un enfoque algorítmico para la evaluación de niños con raquitismo refractario.
  • Destacar la importancia de las pruebas bioquímicas y la secuenciación de próxima generación (NGS) en el diagnóstico del raquitismo refractario.
  • Discutir la fisiopatología y el manejo de las causas comunes de raquitismo refractario.

Principales métodos:

  • Revisión sistemática de la literatura sobre raquitismo refractario.
  • Descripción de una vía de diagnóstico algorítmico.
  • Énfasis en la evaluación bioquímica (análisis de sangre y orina) y las pruebas genéticas (NGS).

Principales resultados:

  • Un enfoque algorítmico facilita el diagnóstico del raquitismo refractario.
  • La secuenciación de próxima generación (NGS) permite una identificación etiológica rápida y precisa.
  • El manejo efectivo requiere un seguimiento regular para optimizar los parámetros bioquímicos, monitorizar el crecimiento y ralentizar la progresión de la ERC.

Conclusiones:

  • El raquitismo refractario requiere una estrategia diagnóstica integral.
  • El diagnóstico temprano y preciso a través de pruebas bioquímicas y genéticas es crucial para una terapia dirigida.
  • El manejo a largo plazo implica la monitorización y la optimización de la atención para mejorar los resultados de los niños afectados.