Cystic Fibrosis Flashcards
Describe the inheritance pattern of cystic fibrosis
•autosomal recessive trait
What is the disease prevalance?
1 : 2,500
Where is the CTFR gene?
On the long arm of chromosome 7
What is the commonest mutation for CF?
•phe508del (DF508)
–70% N europeans
Look
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Look
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What is the function of the CTFR gene?
•Active transport channel for chloride
–Regulates liquid volume on epithelial surface
- Reduced chloride efflux
- Increased sodium influx via ENaC
–Cilia collapse
–Excessive inflammation
Look
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What are the clinical features for CF at antenatal, neonatal, infants and young children, older children and adults?
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What is involved in the neonatal screeing for cystic fibrosis?
- Newborn bloodspot day 5 (Guthrie test)
- Initial screen - immuno-reactive trypsinogen
- If positive, mutation analysis performed (5 in Scotland, 4 in rest of UK)
- Screen positive referred sweat test
- Both stages miss a proportion of cases
What is mortality in CF?
–“Probably” reduces infant mortality
What is lung function in CF?
•Lungs
–Wisconsin study no difference in FEV1 at 7-8y (confounding factors may add bias)
–Small Australian study better lung function at 15y
What is the effect of CF on the brain?
•Brain
–Vitamin E deficient at diagnosis had lower Cognitive Skills Index and head circumference
What is sweat chloride in CF?
Much higher than normal
![](https://s3.amazonaws.com/brainscape-prod/system/cm/365/032/454/a_image_thumb.png?1485948182)
What is management of CF?
–Specialist multi-disciplinary team - since multi-organ disease
Shared care with local clinics
•Primary care
–Surveillance
–Early treatment of infection