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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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Updated: Mar 21, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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La fibrosis quística

J Stuart Elborn1

  • 1School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, and Belfast City Hospital, Belfast, UK.

Lancet (London, England)
|May 4, 2016
PubMed
Resumen
Este resumen es generado por máquina.

La fibrosis quística (FC) es un trastorno genético causado por mutaciones en el gen CFTR, que conduce a la acumulación de moco y daño pulmonar. Las nuevas terapias dirigidas al defecto subyacente están mejorando la función pulmonar y los resultados de los pacientes.

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Área de la Ciencia:

  • La genética
  • Pulmonología
  • La bioquímica

Sus antecedentes:

  • La fibrosis quística (FC) es un trastorno genético autosómico recesivo prevalente que limita la vida.
  • Se deriva de mutaciones en el gen regulador de conductividad transmembrana de la fibrosis quística (CFTR), crucial para el transporte de aniones y el aclaramiento mucociliar de las vías respiratorias.
  • La disfunción CFTR conduce a la retención de moco, infecciones crónicas e inflamación pulmonar, que afectan a varios sistemas de órganos.

Objetivo del estudio:

  • Para revisar la fisiopatología de la fibrosis quística.
  • Discutir las estrategias terapéuticas actuales y emergentes para la FQ.
  • Destacar los avances en la mejora de la calidad de vida y la esperanza de vida de los pacientes con FQ.

Principales métodos:

  • Revisión de la literatura sobre la fisiopatología y el tratamiento de la fibrosis quística.
  • Análisis de datos recientes de ensayos clínicos para nuevas terapias dirigidas a la CFTR.
  • Síntesis de información sobre los modelos multidisciplinarios de atención y su impacto.

Principales resultados:

  • Los tratamientos tradicionales se centran en el aclaramiento de la mucosidad y el control de la infección, mejorando la calidad de vida.
  • Las terapias innovadoras dirigidas directamente al defecto de la proteína CFTR muestran mejoras significativas en la función pulmonar y reducen las exacerbaciones.
  • La esperanza de vida media de los pacientes con FQ ha superado los 40 años debido a estos avances.

Conclusiones:

  • Las terapias dirigidas a CFTR representan un cambio de paradigma, que ofrece un potencial de modificación de la enfermedad.
  • El desarrollo continuo de terapias basadas en pequeñas moléculas y genes promete nuevas mejoras para las personas con FQ.
  • La atención multidisciplinaria sigue siendo esencial para el manejo de las comorbilidades CF y la optimización de los resultados de los pacientes.