1 research outputs found
Cystic Fibrosis ā results of CFTR modulators in Croatia
CistiÄna fibroza najÄeÅ”Äa je nasljedna bolest, koja skraÄuje životni vijek, a uzrokuje je defekt u genu za transmembranski regulator provodljivosti cistiÄne fibroze (eng. cystic fibrosis transmembrane regulator ā CFTR). PoremeÄena je homeostaza elektrolita, Å”to se oÄituje simptomima u viÅ”e organskih sustava. PluÄne manifestacije, s kroniÄnim infekcijama, upalom i, na kraju, respiratornim zatajenjem, ostaju i dalje najvažnija prijetnja životnom vijeku bolesnika. Do prije jednog desetljeÄa bilo je dostupno samo simptomatsko lijeÄenje. Od 2012. g. dostupno
je lijeÄenje tzv. modulatorima CFTR-proteina i njihovim kombinacijama za osobe s cistiÄnom fibrozom koje nose razliÄite varijante CFTR-gena. Pojavom tih lijekova uvelike se promijenila perspektiva i kvaliteta života ljudi s cistiÄnom fibrozom, ali postavljeni i novi izazovi u vezi s dugoroÄnim komplikacijama, pitanje eventualnog smanjenja konvencionalnog lijeÄenja, ali i financiranja terapije, koja je mnogim bolesnicima nedostupna. Iznesene su baziÄne spoznaje o cistiÄnoj fibrozi i funkciji CFTR-proteina, klasifikaciji varijanata CFTR-gena, moguÄnostima lijeÄenja CFTR-modulatorima te osnovni ishodi lijeÄenja bolesnika s cistiÄnom fibrozom u Hrvatskoj, gdje se ta terapija primjenjuje od jeseni 2021. godine.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