Yair J. Blumenfeld

Jun 13, 2023 | acpjournals.org | Yair J. Blumenfeld |Susan R. Hintz |Richard Barth |Natali Aziz

Background: Cystic fibrosis (CF) is a life-shortening, autosomal recessive disease affecting approximately 150 000 people worldwide (1). The clinical manifestations of CF result from abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, and 80% to 90% of cases in populations of Northern European ancestry are due to a biallelic pathogenic variant (F508del) in the CFTR gene (2).