Review article
https://doi.org/10.26800/LV-145-supl5-27
Cystic Fibrosis – results of CFTR modulators in Croatia
Dorian Tješić-Drinković
; Dječja bolnica Srebrnjak, Zagreb
*
Ivan Bambir
Duška Tješić-Drinković
Andrea Vukić Dugac
Ivan Bambiar
Maja Baretić
Latinka Basara
Ana Bogdanić
Dolores Bzik
Fedža Džubur
Vesna Elveđi Gašparović
Nataša Firis
Sanda Huljev Frković
Nevena Krnić
Ivana Kuhtić
Ana Kunović
Tatjana Jalušić Glunčić
Mateja Janković Makek
Agata Ladić
Ivana Lalić
Gorana Levačić
Ivona Markelić
Jasna Markušić
Ana Merkler
Iveta Merčep
Petra Mihelčić
Tomislava Milinković
Tihana Odobašić Palković
Lana Omerza
Eva Pavić
Sanja Perić
Sanja Pleško
Gorazd Poje
Ivana Rako
Ivana Todorić
Andrea Vukić Dugac
Katarina Vuković Đurić
Zrinka Šmuljić
* Corresponding author.
Abstract
Cystic fibrosis, the most frequent lifespan shortening hereditary disease in Caucasians, is caused by a defect in the CFTR (cystic fibrosis transmembrane regulator) gene. Disturbed electrolyte homeostasis leads to the development of different symptoms in multiple organs. Pulmonary manifestations with chronic infections and inflammation result in respiratory failure and remain the most important life-shortening factor. Until recently only symptomatic treatment was available. In year 2012. a new treatment approach with small molecules that modulate the CFTR protein was introduced. Different combinations of CFTR modulators are applicable to certain patients carrying different variants of the CFTR gene. CFTR modulators made a huge difference in the quality of life and perspectives of people with cystic fibrosis. At the same time, new challenges emerged regarding long term complications and possible reduction of conventional treatment options, as well as financial issues that are an obstacle
to the use of these drugs for many patients. This paper brings basic insight into cystic fibrosis, the function of CFTR protein, the classification of CFTR gene variants and possibilities of treatment with CFTR modulators as well as basic outcomes of CFTR modulators treatment in Croatia, where this therapy was introduced in autumn 2021.
Keywords
CYSTIC FIBROSIS, CFTR MODULATORS, LUMACAFTOR/ IVACAFTOR, ELEXACAFTOR/TEZACAFTOR/IVACAFTOR, CROATIA
Hrčak ID:
309092
URI
Publication date:
10.10.2023.
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