Efficacy of the CFTR modulator ivacaftor/tezacaftor/elexacaftor in a cystic fibrosis patient with the F508del mutation in a heterozygous state after 12 months of therapy: A clinical observation

The article examines the clinical case of an 11-year-old patient diagnosed with cystic fibrosis, which was established with a significant delay. Taking into account the genetic examination, a patient with a severe course of the disease was prescribed targeted therapy with the CFTR modulator drug ivacaftor/tezacaftor/elexacaftor. The authors present an analysis of the dynamics of the patient’s condition, including according to functional tests and laboratory tests, one year after the start of this therapy. Positive changes in physical development indicators, respiratory function indicators, a significant decrease in sweat chloride indicators, and an improvement in the X-ray picture in the lungs and paranasal sinuses were noted. In addition, the frequency of forced courses of systemic antibacterial therapy per year decreased from 4-5 to 1. No significant side effects or adverse events were recorded against the background of this therapy.