New therapies in cystic fibrosis

Czech version

Authors: Doušová Tereza
Authors‘ workplace: Pediatrická klinika ; Univerzita Karlova a FN Motol ; Praha ; 2. lékařská fakulta
Published in: Čes-slov Pediat 2023; 78 (5): 254-257.
Category:
doi: https://doi.org/10.55095/CSPediatrie2023/042

Overview

Cystic fibrosis (CF) is the most common life-shortening genetic disease. It affects approximately 100,000 people worlwide. The disease is caused by bi-allelic patogenic variants in the gene encoding the CFTR (Cystic Fibrosis Conductance Regulator) protein, which plays a major role in ion transport across the apical membrane of the epithelial cells. Until recently, treatment of this disease was solely symptomatic. Causal therapy targeting molecular defect of CFTR protein has been available since 2012, when first therapeutic agent was registered. Currently, there are four CFTR modulators available and all together they can work in up to 90 % of all patients with CF. Determining parameter of the respective treatment is the patient’s genotype.

Keywords:

Cystic fibrosis – causal therapy – CFTR modulators

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