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Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression

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Cystic fibrosis.

Isabelle Fajac¹, Pierre-Régis Burgel¹

¹Department of Respiratory Medicine and National Cystic Fibrosis Reference Centre, Cochin Hospital, Assistance Publique Hôpitaux de Paris, 27 rue du faubourg Saint-Jacques, 75014 Paris, France; Université Paris Cité, Inserm U1016, Institut Cochin, 24 rue du faubourg Saint-Jacques, 75014 Paris, France; ERN-LUNG, CF Core Network, Frankfurt, Germany.

Presse Medicale (Paris, France : 1983)

|July 29, 2023

Summary

This summary is machine-generated.

Cystic fibrosis (CF) is a genetic disorder impacting multiple organs. New CFTR modulator therapies offer improved lung function and survival, but access and effectiveness for rare variants remain challenges.

Keywords:

Bronchiectasis CFTR modulators Cystic fibrosis transmembrane conductance regulator (CFTR)Pseudomonas aeruginosa

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Area of Science:

Medical Genetics
Pulmonology
Gastroenterology

Background:

Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
CFTR protein dysfunction disrupts ion transport, leading to multi-organ disease, primarily affecting the respiratory and digestive systems.
Respiratory complications, including mucus plugging, chronic infections, and bronchiectasis, cause progressive lung damage and are the leading cause of mortality in CF patients.

Purpose of the Study:

To review the current status of cystic fibrosis (CF) disease and care.
To discuss the future perspectives in CF management and treatment.

Main Methods:

This review synthesizes current literature on CF pathophysiology, clinical manifestations, and therapeutic advancements.
It focuses on the impact of multidisciplinary care and the emergence of CFTR modulator therapies.
The review also addresses challenges in current CF care, including treatment access and the evolving patient population.

Main Results:

Multidisciplinary care has significantly improved outcomes for CF patients over the past 50 years.
CFTR modulators represent a major therapeutic advancement, partially restoring CFTR function and improving clinical outcomes and lung function.
Despite progress, challenges persist regarding equitable access to CFTR modulators, their efficacy in rare CFTR variants, and the adaptation of care for an aging CF population.

Conclusions:

CFTR modulators have transformed CF care, offering improved survival and quality of life.
Addressing challenges related to cost, access, and effectiveness in specific patient groups is crucial.
Future strategies must focus on personalized medicine, innovative therapies, and adapting healthcare systems to meet the needs of an aging CF population.