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Enfermedad renal poliquística autosómica dominante

Emilie Cornec-Le Gall1, Ahsan Alam2, Ronald D Perrone3

  • 1Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre Hospitalier Universitaire, Brest, France; UMR1078 Génétique, Génomique Fonctionnelle et Biotechnologies, INSERM, Université de Brest, Brest, France; Université de Bretagne Occidentale, Brest, France.

Lancet (London, England)
|March 2, 2019
PubMed
Resumen
Este resumen es generado por máquina.

La enfermedad renal poliquística autosómica dominante (ADPKD) es un trastorno genético común que causa agrandamiento de los riñones y insuficiencia renal. Los avances en genética, imagenología y terapéutica ahora ofrecen un mejor diagnóstico, pronóstico y tratamientos modificadores de la enfermedad para los pacientes con ADPKD.

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Área de la Ciencia:

  • Nefrología
  • La genética
  • Médico interno

Sus antecedentes:

  • La enfermedad renal poliquística autosómica dominante (ADPKD) es la enfermedad renal hereditaria más frecuente y una de las principales causas de enfermedad renal terminal.
  • ADPKD es un trastorno sistémico con diversas manifestaciones clínicas, que incluyen agrandamiento de los riñones, hipertensión, quistes hepáticos, aneurismas intracraneales y enfermedad valvular cardíaca.

Objetivo del estudio:

  • Revisar los avances recientes en la comprensión y el manejo de ADPKD.
  • Para resaltar el impacto de la genética molecular, las imágenes avanzadas, y nuevas terapias en la atención al paciente.

Principales métodos:

  • Revisión de la investigación clínica, incluidos los ensayos aleatorizados de fase 3 controlados con placebo.
  • Integración de los datos de la genética molecular y las técnicas avanzadas de imagen.

Principales resultados:

  • Las herramientas de diagnóstico y pronóstico mejoradas están disponibles para los pacientes y las familias de ADPKD.
  • Un medicamento modificador de la enfermedad ahora está aprobado para pacientes de alto riesgo de ADPKD, mejorando las estrategias de manejo.

Conclusiones:

  • Los desarrollos recientes proporcionan una base sólida para las recomendaciones basadas en la evidencia en la gestión de ADPKD.
  • La implementación de estos avances puede retrasar la insuficiencia renal, reducir los síntomas y mejorar los resultados cardiovasculares, prolongando la vida.