Cystic Fibrosis

The disease is caused by mutations in the CFTR gene. The supplied grounding supports a genetic etiology and does not identify non-genetic causes.

CFTR dysfunction leads to abnormal epithelial secretion and ductal obstruction in affected organs. In the airways, mucus becomes overproduced and more concentrated, with altered structure and viscoelastic properties that impair mucociliary defense and promote obstruction and infection. The literature also describes dysregulated innate and adaptive immune responses in chronic lung infection, contributing to persistent bacterial infection and inflammatory lung damage.

An autosomal recessive inheritance pattern increases risk when an individual inherits pathogenic CFTR mutations from both parents. The grounding does not support additional risk factors beyond the underlying genetic cause.

The supplied grounding supports treatment categories rather than a single definitive regimen. Literature in the grounding includes drug therapy and therapy focused on CFTR-directed approaches, modulation of mucus and airway disease, and management of chronic respiratory infection and inflammatory complications. It also mentions investigational or adjunctive approaches affecting CFTR trafficking, kinase inhibition, and immune modulation, but does not support a more specific standard-of-care summary.