Cystic fibrosis is an autosomal recessive genetic disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride and bicarbonate channel at the apical membrane of epithelial cells. Defective CFTR function impairs ion and water transport, producing thick, …
Cystic fibrosis is an autosomal recessive genetic disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride and bicarbonate channel at the apical membrane of epithelial cells. Defective CFTR function impairs ion and water transport, producing thick, viscous secretions that obstruct the airways, pancreatic ducts, intestine, and other exocrine organs. The clinical consequences include chronic suppurative lung disease with recurrent infection and progressive respiratory decline, pancreatic insufficiency with maldigestion and malnutrition, and elevated sweat chloride that underpins diagnosis. Management is multidisciplinary, encompassing airway clearance, control of infection, nutritional support, and CFTR-modulator therapies in eligible patients. Research relevant to the broader context of this topic includes the clinical use of peptide-based enteral formulas in pediatric populations, chronic pain after lung transplantation, and the management of plastic bronchitis in children, conditions intersecting the respiratory and nutritional challenges seen in chronic lung disease. Related work addresses genetic disability and emerging immunogenomic approaches to monitoring chronic and infectious disease. The journal publishes peer-reviewed clinical and pediatric studies addressing chronic respiratory, digestive, and nutritional disorders relevant to cystic fibrosis and its complications.
12 peer-reviewed articles, ranked by relevance. Each links to its DOI.
The 12 articles above have been cited 18 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
A sample of recent works citing this journal's research on Cystic Fibrosis, linking to each citing work.