Cystic Fibrosis Flashcards
What is cystic fibrosis?
An autosomal recessive inherited diseases 1 in 25 carry the mutated gene.
What percentage of the population carry the mutated gene?
4%
Which ethnic group is it most prevelant in?
Caucasians
What is the CFTR gene responsible for?
Regulates chloride and bicarbonate transport.
What are the types of CFTR gene mutations?
No functional protein
trafficking defect
defective channel regulation
decreased conduction
reduced synthesis
decreased stability
What are the clinical manifestations of cystic fibrosis?
Thick secretions
increased salt in sweat
airway dehydration
impaired mucociliary clearance
chronic inflammation
How is cystic fibrosis diagnosed?
Sweat test (>60mmol/L)
genetic testing
neonatal screening.
What are common pathogens in early cystic fibrosis infections?
Staphylococcus aureus
Streptococcus pneumoniae
Haemophilus influenzae
What is a major pathogen in later cystic fibrosis infections?
Pseudomonas aeruginosa.
What is the role of mucolytics in CF treatment?
Reduce sputum viscosity and facilitate clearance.
Examples of mucolytics
Dornase alfa
Hypertonic saline
What are pancreatic insufficiency symptoms in cystic fibrosis?
Diabetes mellitus, features of both type I and II. Managed with insulin and dietary changes.
What hepatobiliary complications are associated with CF?
Meconium ileus
GORD
liver dysfunction.
How does cystic fibrosis affect bone health?
Osteoporosis due to poor nutrition
steroids, and vitamin deficiencies
Calcium with Vitamin D is recommended.
What is recommended for cystic fibrosis with bone issues?
Calcium with Vitamin D
