Cystic Fibrosis Flashcards
What is the incidence of CF?
1 in 25 carry it
1 in 2500 are sufferers
(autosomal recessive)
What does the CF mutation do?
It affects the quantity and function of CFTR channels (Cystic Fibrosis Transmembrane Conductance Regulator)
What does the CFTR do/
Sits ont he surface of mucous producing cells and acts as an active transport channel for chloride ions. Essential to maintaining the salt/water balance on the surface.
What is the consequence of abnormal CFTR proteins?
Cilia collapse & inflammation leading to bacterial colonisation, mucuous plugging and further airway damage with bronchiectasis.
How are neonates screened for CF?
- Guthrie Test Day 5, bloodspot looking for high IRT (immunereactive trypsinogen)
What happens if there’s a positive guthrie test?
The babies genes are analysed for CF genes
If 2 are found CFs suspected and they’re referred to a CF clinic for testing including a sweat test
Whats the point of early CF screening?
Allows warning of infections and an improved nutrional status for the sufferer.
What are the common manifestations of CF?
Recurrent Bronchopulmonary Infections
Bronchiectasis & progressive airflow obstruction
Pancreatic Insufficiency
Fertility Issues
GI motility, hepatopathy, diabetes, upper airway sinusitis, oseopenia/arthropathy vaginal candiasis.
How does Cf cause a progressive airflow obstruction?
Chronic excess sputum production, bronchiectasis and recurrent infections fills the airway with mucous, inflammatory debris/swelling and scarring.
What can occur as a result of the progressive airflow obstruction?
Progressive Dyspnoea with eventual respiratory failure
Haemoptysis and Pneumothorax
How do we treat the progressive airflow obstruction caused by CF?
We can delay it with bronchodilators and oxygen.
Bilateral Lung Transplants.
Mucolytics and airway clearance techniques can make it easier to clear the mucous.
What are some airway clearance techniques?
Percussion & Drainage
Active cycle of breathing
Autogenic drainage
How do we treat/prevent recurrent chest infections?
Co-horting and prophylactic antibiotics when very young.
Yearly Flu vaccinations.
Later treat infective exacerbations with large dose multi IV antibiotics (a B-lactam & aminoglycoside)
What happens to a CF sufferer with pancreatic insufficiency?
Abnormal pale or orange stools, very offensive and oily.
Failure to thrive, possibly with a fat soluble vitamin deficiency.
How do we treat a pancreatic insufficiency?
Enteric Coated Enzyme Pellets
High Energy Diet (Not low Fat)
Fat soluble vitamin & mineral supplements.