Cystic Fibrosis Flashcards
1
Q
What causes Cystic Fibrosis
A
Faulty gene (recessive therefore need both parents to be carriers)
2
Q
What causes the thick sticky mucus on the surface of epithelial cells in CF?
A
Dinmished transport of chloride, sodium and water through the transmembrane channel
3
Q
H hi pe is CF diagnosed?
A
New born screening (heel prick) - tested for common mutations and other hereditary conditions
Sweat test - measures concentration of Chloride in sweat (over 60mmol/l = likely CF
This is due to defect in sweat glands resulting in reduced transport of chloride ions back into sweat duct cells.
Genetic testing (and carrier testing)
4
Q
What organs are affected by CF
A
Sinuses
Lungs
Skin
Liver - blocked biliary ducts
Pancreas
Intestines
Reproductive organs
