Cystic Fibrosis
Cystic fibrosis is an autosomal-recessive CFTR disorder in which abnormal epithelial salt and water transport produces dehydrated secretions, chronic suppurative lung disease, pancreatic insufficiency and multisystem complications; modern UK care combines specialist prevention, infection control, nutrition and genotype-directed CFTR modulation.
Definition
Cystic fibrosis is an autosomal-recessive multisystem disorder caused by pathogenic CFTR variants. Abnormal epithelial chloride and water transport produces dehydrated secretions, chronic suppurative airway disease, pancreatic exocrine insufficiency and characteristically raised sweat chloride, with variable involvement of the intestine, liver, reproductive tract and endocrine pancreas.
First principles
One CFTR defect explains the multisystem phenotype
CFTR regulates chloride and water movement across epithelial surfaces. Dysfunction dehydrates airway, pancreatic, biliary and intestinal secretions, while impaired chloride reabsorption in sweat ducts produces salty sweat. The same channel defect therefore links mucus plugging, bronchiectasis, malabsorption, intestinal obstruction and salt loss.
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