Abstract
Cystic fibrosis (CF) is a serious, age-progressive, life-limiting, autosomal recessively inherited multiorgan disease, characterized in childhood mainly by failure to thrive and recurrent respiratory infections with chronic obstruction. The development of the disease cannot be predicted even with ever-improving diagnostic and therapeutic options.
Efforts to maximally compensate for the underlying disease, prevention and early treatment of complications, and especially personalized care with the possibility of innovative therapy in patients with good compliance while meeting genetic and age aspects, is the essence of the current therapeutic approach to patients with CF. With the discovery and introduction of innovative therapy with CFTR protein modulators into clinical practice, the quality of life of patients and the prognosis of the disease have significantly improved since 2012.
There are currently four types of CFTR modulators available in the Czech Republic: the ivacaftor potentiator alone (Kalydeko) or in combination with the lumacaftor corrector (Orkambi), the tezacaftor corrector (Symkevi), or two elexacaftor and tezacaftor corrector (Kaftrio). If the indication criteria for causal therapy are not met, the effort remains to maximize the intensification of symptomatic treatment with the incorporation of PhysioAssist or Simeox into the daily regimen to facilitate expectoration and ensure effective airway clearance.
As the presented case report of a 13-year-old girl demonstrates, clinical. laboratory and functional benefits from causal threrapy can also be expected in CF patients who meet the indication for modulator treatment according to the U.S. Food and Drug Administration.