Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Fibrosi cistica 2025: stato dell’arte e novità

Cystic fibrosis: state of the art and updates

Massimo Maschio1, Federica Grazian2, Arianna Traunero2, Sergio Ghirardo1, Alessandro Amaddeo1

1IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
2Università di Trieste

Settembre 2025 - pagg. 430 -440 | DOI: 10.53126/MEB44430

Abstract
Cystic Fibrosis is caused by the mutations in the CFTR chloride channel protein and is still one of the most common fatal genetic disease worldwide. It is a multisystem disease but, to date, most of its morbidity and mortality is due to muco-obstructive lung disease. In the last thirty years a great change in the survival of cystic fibrosis patients has been observed: first thanks to molecules such as mucus active drugs, inhaled antibiotic and lung transplantation, and then in the last ten years to the development of chloride channel modulators. Currently, the triple combination (elexacaftor/tezacaftor, ivacaftor) is prescribed for about 70% of the patients in Italy and will be approved for a further 20%. Other compounds are being studied for the patients who are not eligible for modulators. Finally, carrier screening, which is provided for by law, is being implemented only in some countries where it has led to a significant reduction in the disease incidence.
Riassunto
La Fibrosi Cistica è causata all’alterazione della proteina CFTR canale del cloro e rimane una delle malattie genetiche a prognosi infausta più comuni. È una patologia multisistemica e il coivolgimento polmonare determina la qualità e l’aspettative di vita. Negli ultimi trent’anni si è assistito a un cambiamento radicale nella sopravvivenza di questi pazienti: prima grazie a farmaci mucoattivi, antibiotici inalatori e trapianto polmonare e poi negli ultimi dieci anni con l’arrivo dei modulatori del canale del cloro. Attualmente la triplice combinazione (elexacaftor/tezacaftor, ivacaftor) è prescrivibile per circa il 70% dei pazienti in Italia e a breve arriverà l’autorizzazione per un ulteriore 20% di pazienti. Sono in studio altri composti indirizzati anche ai pazienti non eligibili al momento a modulatori. Infine ricordiamo il test al portatore, previsto per legge, ma ad oggi attuato solo in alcuni stati esteri dove si è ottenuto un crollo dell’incidenza della malattia.
Parole chiave
IT fibrosi cistica modulatori dei canali del cloro Modulatori dei canali del cloruro screening dei portatori
EN Carrier screening CFTR Chloride Channel Modulators Cystic fibrosis
Suggerite dall'AI
EN Bronchiectasis
Classificazione MeSH
Cystic Fibrosis (132) Cystic Fibrosis Transmembrane Conductance Regulator (18) Drug Therapy, Combination (20) Genetic Testing (43) Heterozygote Detection (2) Lung Diseases (15) Lung Transplantation (8)
Leggi anche
RI L'intervista
La fibrosi cistica, lo screening neonatalee lo screening del portatore Intervista a Carlo Castellan...
· 2011
Heterozygote Detection, Lung Diseases/Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Testing/Genetic Carrier Screening
RI Aggiornamento monografico
Fibrosi cistica: dal gene alla pratica
L. Giglio, D. Faraguna · 1999
Lung Diseases/Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Testing, Cystic Fibrosis
RI La pagina gialla
Una cura efficace per il 90% dei pazienti con fibrosi cistica? “Come una frana”… PPI, infezioni e...
· 2019
Lung Diseases/Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic Fibrosis
RI Editoriali
La fibrosi cistica nel 2017
B.M. Assael · 2017
Lung Transplantation, Lung Diseases/Cystic Fibrosis, Cystic Fibrosis
RI Ricerca
Trapianto di polmone in fibrosi cistica
A. Agrusti, M. Bramuzzo, M. Maschio, A. Ventura · 2017
Lung Transplantation, Lung Diseases/Cystic Fibrosis, Cystic Fibrosis
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Bibliografia

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