Cystic fibrosis

Definition and pathophysiology (NEJM 2015;372:351)

  • Autosomal recessive genetic disorder due to mutations in chloride channel (CFTR gene)
  • ↑ mucus thickness, ↓ mucociliary clearance, ↑ infections → bronchiectasis

Clinical features

  • Recurrent PNA, sinus infections
  • Distal intestinal obstruction syndrome (DIOS), pancreatic insufficiency (steatorrhea, malabsorption, failure to thrive, weight loss), CF-related diabetes, infertility

Treatment (Lancet 2016;388:2519)

  • Acute exacerbations: may be assoc w/ persistent drop in FEV1 (AJRCCM 2010;182:627); continue aggressive airway clearance, target abx based on sputum cx (incl double coverage for PsA); common pathogens include PsA, S. aureus, on-typeable