Cystic Fibrosis Flashcards
Cystic Fibrosis
syndrome characterized by widespread dysfunction of exocrine gland
multi-system involvement
life expectancy = 41.1 years
defective CFTR, which is protein found in the cells that line lungs and pancreas and controls movement of sodium and chloride in and out of cell > salt balance disturbance (too little salt and water on outside of cells causing thick mucus)
without CFTR:
- airway surface is depleted
- mucociliary clearance is reduced
- mucus viscosity is increased
- failure to resorb NaCL
*CF pts do not make more mucus than non-CF
CF: Clinical Findings (Pulmomary)
- chronic lung disease
- inflammation
- viscous mucus
- dysfunctional mucociliary transport
- obstruction
- chronic infection
- chronic cough
- sputum production
- respiratory failure
progressive disease > respiratory failure > death
CF: Clinical Findings (GI/Nutrition)
- meconium ileus
- pancreatic insufficiency
- rectal prolapse
- steatorrhea
- failure to thrive
- volvulus
- vitamin deficiencies
- distal intestinal obstructive syndrome
CF: Clinical Findings (Hepatobiliary Tract)
- biliary cirrhosis
- jaundice
- ascites
- hematemesis
CF: Clinical Findings (Endocrine)
- recurrent pancreatitis
- diabetes mellitus
CF: Clinical Findings (Musculoskeletal)
- vitamin D deficiency
- osteoporosis
CF: Clinical Findings (Reproductive)
- delayed sexual development
- male sterility
CF: Dx
- newborn screening
- sweat test
- genetic analysis for CFTR mutation
CF: Management (Pulmonary)
- inhaled dornase alfa (for airway clearance)
- Ivacaftor (transmembrane conductance regulator)
- high-dose ibuprofen (to reduce chronic inflammation)
- manage chronic pneumothoraces
- lumacaftor/ivacaftor (new combo drug for specific mutation)
CF: Management (GI)
- replacement of pancreatic enzymes
- A, K, E, D replacement
- management of CF liver disease
- DIOS management (osmotic laxatives)
CF: Management (Endocrine)
diabetes mellitus management
