Cystic Fibrosis Flashcards
Persistant respiratory infections due to
Decreased mucociliary clearance
Decreased endocytosis of bacteria
Increased bacterial adherence
Leads to bacterial colonisation
To inflammation
Mucus plugging
Airway ulceration
Airway damage
To bronchiectasis
And back to start
Aggressive progressive bronchiectasis
Chronic sputum production (purulent)
Progressive airflow obstruction
Survival related to FEV1
Increased exertional dyspnoea
Bronchodilators (inhaled nebulised)
Radiology
Hyperinflated lung, lots of scarring, air trapping
Haemoptysis
Common
Associated with infection
If large, may need embolisation
Pneumothorax
Commoner in older males
Associated with poor prognosis
Frequently require surgical intervention
CFTR
Cystic fibrosis transmembrane conductance regulator
Different mutations => different phenotypes
Controls movement of chlorine
Ivacaftor
CFTR potentiator, binds and improves transport of Cl- ions
Improves lung function
Weight gain
Reduces sweat chloride
Lung transplantation
Double lung
Rapidly deteriorating lung function (FEV1 < 30%)
CFTR function
Active transport channel for chloride
Abnormal ciliary function in CF
Loss of fluid, cilia collapse
Neonatal clinical features
Screening
Infants and young children clinical features
Recurrent chest infections
Failure to thrive
Pancreatic insufficiency
Small, scarred, fibrotic
Fat cannot be digested
Abnormal stools (pale or orange, smelly, greasy or oily)
Failure to thrive (may have deficiencies of fat soluble vitamins)
Treatment (for pancreatic insufficency)
Enzyme replacement therapy
(Ivacaftor)
High energy diet
