Cystic fibrosis.

Humans Cystic Fibrosis / physiopathology Cystic Fibrosis Transmembrane Conductance Regulator / genetics Quinolones / therapeutic use Aminophenols / therapeutic use Mutation Infant, Newborn Benzodioxoles / therapeutic use Neonatal Screening / methods

Journal

Nature reviews. Disease primers
ISSN: 2056-676X
Titre abrégé: Nat Rev Dis Primers
Pays: England
ID NLM: 101672103

Informations de publication

Date de publication:
08 Aug 2024
Historique:
accepted: 09 07 2024
medline: 9 8 2024
pubmed: 9 8 2024
entrez: 8 8 2024
Statut: epublish

Résumé

Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect. The CFTR protein functions as an ion channel that is crucial for correct ion and fluid transport across epithelial cells lining the airways and other organs. Consequently, CFTR dysfunction causes a complex multi-organ disease but, to date, most of the morbidity and mortality in people with cystic fibrosis is due to muco-obstructive lung disease. Cystic fibrosis care has long been limited to treating symptoms using nutritional support, airway clearance techniques and antibiotics to suppress airway infection. The widespread implementation of newborn screening for cystic fibrosis and the introduction of a highly effective triple combination CFTR modulator therapy that has unprecedented clinical benefits in up to 90% of genetically eligible people with cystic fibrosis has fundamentally changed the therapeutic landscape and improved prognosis. However, people with cystic fibrosis who are not eligible based on their CFTR genotype or who live in countries where they do not have access to this breakthrough therapy remain with a high unmet medical need.

Identifiants

DOI: 10.1038/s41572-024-00538-6 PMID: 39117676
pubmed: 39117676
doi: 10.1038/s41572-024-00538-6
pii: 10.1038/s41572-024-00538-6
doi:

Substances chimiques

Cystic Fibrosis Transmembrane Conductance Regulator 126880-72-6
CFTR protein, human 0
Quinolones 0
Aminophenols 0
ivacaftor 1Y740ILL1Z
Benzodioxoles 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

53

Informations de copyright

© 2024. Springer Nature Limited.

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Auteurs

Marcus A Mall (MA)

Department of Paediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität, Berlin, Germany. marcus.mall@charite.de.
German Centre for Lung Research (DZL), Associated Partner Site Berlin, Berlin, Germany. marcus.mall@charite.de.
German Center for Child and Adolescent Health (DZKJ), Partner Site Berlin, Berlin, Germany. marcus.mall@charite.de.
ORCID: 0000-0002-4057-2199

Pierre-Régis Burgel (PR)

Université Paris Cité and Institut Cochin, Inserm U1016, Paris, France.
Department of Respiratory Medicine and National Reference Center for Cystic Fibrosis, Cochin Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
ORCID: 0000-0003-0903-9828

Carlo Castellani (C)

IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy.

Jane C Davies (JC)

National Heart & Lung Institute, Imperial College London, London, UK.
St Thomas' NHS Trust, London, UK.
Royal Brompton Hospital, Part of Guy's & St Thomas' Trust, London, UK.

Matthias Salathe (M)

Department of Internal Medicine, University of Kansas Medical Center, Kansas City, MO, USA.

Jennifer L Taylor-Cousar (JL)

Division of Pulmonary, Critical Care and Sleep Medicine, National Jewish Health, Denver, CO, USA.
Division of Pulmonary Sciences and Critical Care Medicine, Anschutz Medical Campus, University of Colorado, Aurora, CO, USA.
Division of Paediatric Pulmonary Medicine, National Jewish Health, Denver, CO, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cystic fibrosis.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Mucoviscidose › Cystic fibrosis.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Pompes ioniques › Transporteurs d'anions › Transporteurs d'anions organiques › Transporteurs d'anions organiques ATP-dépendants › Protéines associées à la multirésistance aux médicaments › Protéine CFTR › Cystic fibrosis.
questionsmedicales.fr › Composés hétérocycliques › Composés hétérocycliques à cycles fusionnés › Composés hétérobicycliques › Quinoléines › Quinolinone › Cystic fibrosis.
questionsmedicales.fr › Composés chimiques organiques › Hydrocarbures › Hydrocarbures cycliques › Hydrocarbures aromatiques › Dérivés du benzène › Phénols › Aminophénols › Cystic fibrosis.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Cystic fibrosis.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Cystic fibrosis.
questionsmedicales.fr › Composés hétérocycliques › Composés hétérocycliques à cycles fusionnés › Composés hétérobicycliques › Benzodioxoles › Cystic fibrosis.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pratiques en santé publique › Dépistage de masse › Dépistage néonatal › Cystic fibrosis.