Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition

Abstract

This manuscript reviews developments in the diagnosis and treatment of cystic fibrosis (CF) and addresses the impact on families. Once the classic example of a single-gene, autosomal recessive, life-shortening condition, CF and related disorders are now known to form a phenotypic spectrum with genetic etiology rooted in more than 2000 known variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This spectrum encompasses asymptomatic newborns and adult-diagnosed individuals in addition to classically diagnosed infants and children. Advances in variant-specific therapies are driving research and clinical agendas. Nearly two decades of CF carrier, prenatal, and newborn screening have contributed to knowledge and understanding of genotypic and phenotypic diversity, generating new diagnostic terminology and unique resources, such as the CFTR2 database. Advanced cellular-level treatments are clinically available and under further development. Patients and families are collaborating with their clinical and research teams to improve care and drive research forward.