Cystic fibrosis: a comprehensive review

Abstract

With almost 100 000 people affected worldwide, cystic fibrosis (CF) represents one of the most fatal inherited conditions found in Caucasian individuals, being clinically characterized by a progressive pulmonary dysfunction, pancreatic insufficiency, and male infertility. Alterations in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein has been found to be the sole responsible for the disease, with over 2000 defects being identified since 1989. Here we present, at a basic descriptive level, the current understanding of the clinical and genetic traits of CF gene modifications, the challenges associated with the early diagnosis and management strategies but also new emerging therapies that can improve the individual’s life expectancy by enabling patient-specific treatment.