А. V. Nistarova

Challenges in targeted therapy for cystic fibrosis in a patient with the complex allele [L467F; F508del]: from failure of first-line modulator therapy to successful use of vanzacaftor+tezacaftor+deutivacaftor combination

Cystic fibrosis (CF) is the most common inherited autosomal recessive disorder, caused by mutations in the CFTR gene. The introduction of CFTR modulators has fundamentally changed the prognosis and quality of life of patients. However, the presence of complex alleles may significantly affect the efficacy of targeted th...