Short-term effects of elexacaftor/tezacaftor/ivacaftor in pediatric cystic fibrosis patients in Brazil: a case series

Abstract

Cystic fibrosis (CF) is a chronic autosomal recessive disorder, with an estimated incidence of approximately 1 in 7,000 live births.(1) It results from genetic mutations on chromosome 7, affecting the CF transmembrane conductance regulator (CFTR) protein.(2) A deeper understanding of the molecular consequences of mutations in the CFTR gene has led to the development of smallmolecule modulators, such as the triple combination of elexacaftor, tezacaftor, and ivacaftor (ETI), which enhance CFTR activity and improve organ function in patients with CF.(3) CFTR modulators are transforming the lives of CF patients, with short- and long-term clinical improvements.(4,5) Real-life studies in Brazil have detailed the remarkable effects that ETI therapy has on adult CF patients.(6) Nevertheless, to our knowledge, this is the first case series showcasing the short-term effects of ETI therapy on pediatric patients in Brazil, all of whom were monitored at a CF referral center in southern Brazil. Written informed consent was obtained from the patients for publication of the details of their medical case and any accompanying images.