Sanguinetti: CF Flashcards
What is the gene defect in cystic fibrosis?
CTFR - chloride channel
Defective CFTR results in decreased secretion of (blank) and increased reabsorption of (blank) and water across epithelial cells
Cl-
Na+
CFTR causes dysfunction in epithelial cells in these organ systems
resp tract
pancreas
GI tract
sweat glands
CFTR mutations have poor penetrance. What does this mean?
severe genotype does not necessarily mean the phenotype will be severe - this suggests that other genes play a role, and maybe the environment as well
Clinical manifestations of CF?
sinusitis (mucus gets sticky and produces bacterial infections)
lungs: thick sticky mucus build-up –> chronic infections which lead to structural changes –> destruction of airways
salty sweat (can brush sweat off your skin)
blocked ducts in the liver and pancreas
decreased nutrient absorption with intestines
infertility with males
Different options for treating CF?
increased calories & protein in diet bc nutrients are hard to absorb
antibiotics for lung infections
chest physiotherapy to remove thick mucous (pound on the patient, use a vest, etc)
breathing exercises (huff coughing to move mucus out)
aerosol therapy (nebulizers and what not)
mucolytics
Other symptoms of CF?
fatigue chronic cough clubbing, barrel chest recurrent UTIs problems with absorbing fat, which causes fatty, stinky stools
What bugs are patients with CF likely to get?
Staph and H. influenzae in kids
Pseudomonas aeruginosa in older pts
**P. aeruginosa lays down a biofilm, which contributes to its virulence
How is the sweat chloride test performed?
patch placed on skin –> electrical current pushes meds into skin to cause sweating –> sweat is collected, salt is measured
T/F: Some patients with CF are pancreas-sufficient, meaning they can produce these enzymes and don’t have much failure to thrive. Others are not so fortunate. :(
True
