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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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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: Nov 3, 2025

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La fibrosis quística

Michal Shteinberg1, Iram J Haq2, Deepika Polineni3

  • 1Pulmonology Institute and CF Center, Carmel Medical Center, Haifa, Israel; Rappaport Faculty of Medicine, The Technion-Israel Institute of Technology, Haifa, Israel.

Lancet (London, England)
|June 6, 2021
PubMed
Resumen
Este resumen es generado por máquina.

La fibrosis quística (FC) es un trastorno genético causado por mutaciones en el gen CFTR. Los nuevos medicamentos moduladores están transformando el tratamiento al restaurar la función de la proteína CFTR, mejorando los resultados para los pacientes.

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Área de la Ciencia:

  • Genética y Biología Molecular
  • Pulmonología
  • Gastroenterología

Sus antecedentes:

  • La fibrosis quística (FC) es una enfermedad monogénica que afecta a más de 100.000 personas en todo el mundo.
  • Las mutaciones en el gen CFTR afectan el transporte de iones, lo que lleva a la acumulación de moco y daño de órganos.
  • Las manifestaciones clínicas incluyen infecciones pulmonares crónicas, insuficiencia pancreática y comorbilidades como la diabetes relacionada con la FQ.

Objetivo del estudio:

  • Revisar la comprensión actual de las mutaciones de CFTR, la función de la proteína y la fisiopatología de la enfermedad.
  • Evaluar las estrategias actuales de tratamiento de la fibrosis quística.
  • Explorar las direcciones futuras en la atención multidisciplinaria y las terapias emergentes.

Principales métodos:

  • Revisión de la literatura sobre las mutaciones del gen CFTR y su impacto en la función de las proteínas.
  • Análisis de las modalidades actuales de tratamiento, incluidos los cuidados de apoyo y las terapias emergentes.
  • Discusión de los métodos de diagnóstico y la progresión de la enfermedad.

Principales resultados:

  • Las mutaciones del gen CFTR son la causa subyacente de la fibrosis quística, afectando la función del canal iónico.
  • El tratamiento actual mejora la esperanza de vida, pero no restaura completamente la función CFTR.
  • Los fármacos moduladores de moléculas pequeñas representan un avance significativo en la restauración de la función CFTR.

Conclusiones:

  • Las terapias moduladoras de CFTR están revolucionando el tratamiento de la fibrosis quística.
  • La investigación continua de nuevos enfoques terapéuticos es crucial para mejorar los resultados a largo plazo.
  • La atención multidisciplinaria es esencial para el manejo de la creciente población adulta con fibrosis quística.