Cystic fibrosis: A rare disease

Cystic fibrosis (CF) is a hereditary autosomal recessive disease predominantly affecting Caucasian children and young adults. It arises from mutations in the CFTR (Cystic fibrosis transmembrane Conductance regulator) gene, leading to thick, sticky mucus accumulation and subsequent organ damage, primarily in the lungs and digestive system. Diagnostic methods include neonatal screening, sweat chloride tests, and genetic testing. Management focuses on clearing airways, preventing infections, and maintaining nutrition. Emerging treatments target CFTR gene mutations, including gene therapy and genome editing. This review summarizes CF's background, prevalence, etiology, complications, diagnosis, treatments, and future research directions.