CF Flashcards
1
Q
autosomal ? condition 1/2500 live births 1/25 carrier freq in ?'s mutation in ???? gene on chr ?, pos 508 screening available for the ? most common muts, this IDs ?% of CF cases
A
recessive caucasians CFTR 7 4 90
2
Q
most common abnormality is a point ? - this codes for a camp regulated ? channel present predom in ? and ? tract
malfxing ???? genes -> very ? secretions -> ? insuff and recurrent ? infections
life exp now exceeds ? years
A
deletion chloride panc resp cftr thick panc chest 30
3
Q
Pulm effects
- recurrent childhood ? infections with failure ? ?
- ? and ? develop in later years as progressive ? develops
- spont ? is common - due to ? as air is trapped behind ? plugs
- most have chronic ? - and many have nasal ?
- ? failure and ? ? can develop due to scarring of the pulm ?
A
chest to thrive SOB haemoptysis bronchiectasis pneumothorax hyperinflation mucin sinusitis polyps resp cor pulm vasculature
4
Q
GI effects
- ? ? is common at birth
- ? due to ? insuff, ass w malabsorption
- incr freq of ? ? and ? ulceration
- ? develops in 10% of older patients
A
mec ileus steatorrhoea panc gall stones peptic cirrhosis
5
Q
Other effects ? (unlike COPD) ? in most males (congenital absence of the ? rather than incr viscosity) - ? in females DM in ?% ?/? due to Vit D def
A
cubbing infert vas subfert 10 osteomalacia/rickets
6
Q
Pulm infections initially caused by ? ?, ? ? and gram neg bacilli, but later ? predominates, and this is ass w poor ?
? bronchopulm ? is also more common in CF, in which the bodys resp to the common fungus ? fumigatus causes worsening of ? problems
A
s aur haem infl PA prog allergic aspergillosis aspergillus breathing
