cystic fibrosis Flashcards
what is the common infectious organism associated with bronchiectasis + cystic fibrosis called?
pseudomonas aeruginosa
what is cystic fibrosis?
common autosomal recessive disorder
what is mutated in cystic fibrosis?
transmembrane conductance regulator protein (CFTR)
where is the mutation coded on?
chromosome 7
what is the most common mutation called?
delta-F508
what does abnormal protein channel function (CFTR ) lead to ?
chloride being trapped in the cell
what 4 things does the movement of sodium and water into the cell lead to?
- airway surface dehydration
- bacteria collection
- difficulty in coughing
- shearing (accumulation of mucus)
what does decreased mucociliary clearance lead to?
- frequent pulmonary infections with bacterial colonisation
-> chronic damage to pulmonary tree
–> abnormal dilation (bronchiectasis)
what are 3 extrapulmonary effects/
fat malabsorption due to pancreatic insufficiency
risk of osteoporosis
risk of type 2 diabetes
what are 5 presentations of cystic fibrosis?
abnormal stools (pale, offensive, float)
chronic productive cough
failure to thrive, weight gain + difficulty growing
haemoptysis
recurrent chest infections
what are 7 presentations of cystic fibrosis?
bronchiectasis
chest infections
haemoptysis
infertility
meconium ileus (bowel obstruction)
pancreatic insufficiency
type 2 diabetes
what is used to diagnose this?
Newborn blood spot testing is performed on all children shortly after birth and picks up most cases
The sweat test is the gold standard for diagnosis
Genetic testing for the CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth
what is the treatment for CF?
MDT approach
Maintaining lung function (physiotherapy, postural drainage, mucolytics)
Monitoring lung bacteriology (antibiotics)
Consider referral for a lung transplant
Nutritional support
Enzyme replacement
Vitamin replacement (A, D, E & K)
Frequent weight review
Endocrine
Annual screening for CF-related diabetes
Fertility advice
Pseudomonas pneumonia - nebulised antibiotics e.g. tobramycin and oral ciprofloxacin