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), usually Delta-F508
it controls movement of anions such as chloride
where is the mutation coded on?
chromosome 7
what does abnormal protein channel function (CFTR ) lead to ?
Chloride being trapped in the cell
leading to dysfunctional mucociliary clearance
what does decreased mucociliary clearance lead to?
- recurrent chest infections with bacterial colonisation
-> chronic damage to pulmonary tree
–> abnormal dilation (bronchiectasis)
complications of cystic fibrosis:
fat malabsorption due to pancreatic insufficiency
osteoporosis
type 2 diabetes
bronchiectasis
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 can indicate a high chance of cystic fibrosis?
sweat chloride levels >60 mmol/L
what are 2 neonatal tests for cystic fibrosis:
guthrie test - newborn bloodspot on day 5
sweat test (measure chloride levels in sweat) - gold standard
what are 3 antenatal testing of cystic fibrosis:
Genetic testing for the CFTR gene can be performed during pregnancy
pre-implantation genetic diagnosis
Chorionic villous sampling
amniocentesis
what does CT scan of lungs of cystic fibrosis patient show?
Tramlines (elongated, thick, dilated airways)
Signet rings (round dilated airways)
Consolidation (due to infection)
describe the 3 management options for respiratory infections and mucus clearance in cystic fibrosis:
Oxygen (if required)
Respiratory physiotherapy and regular usage of Mucolytics and Bronchodilators
Antibiotics (oral, intravenous or nebulised)
describe the 3 management options for pancreatic insufficiency in cystic fibrosis:
Enzyme replacement by CREON
High energy plus high calorie supplement drinks
Fat-soluble vitamins and mineral supplements
what drugs are uses for cystic fibrosis that target CFTR gene?
Kaftrio (tezacaftor/ lumacaftor/ ivacaftor)
Kalydeco - ivacaftor
Orkambi - ivacaftor/ lumbacaftor
Symkevi - tezacaftor/ ivacaftor
