Cystic FIbrosis Flashcards
CF affects how many people in the U.S. and in the world respectively?
30,000
70,000
What does CF ultimately cause?
Sticky unusually thick mucus
What happens when CF mucus is produced?
It clogs lungs
Causes lung infections
Obstructs pancreas
Affects enzymes from food break down and food absorption
How many new cases of CF are diagnosed each year?
1,000 per year
Life expectancy of CF patients?
30s 40s and beyond
What gene is defective in CF patients?
CFTR (CF transmembrane conductance regulator) gene
What is the best way to diagnose cystic fibrosis?
Sweat test
How to interpret the sweat test?
High NaCl levels indicate CF
When was the CFTR gene discovered?
1989
What is the specific gene defect in CTFR gene?
F508del
What does the majority of morbidity and mortality come from in CF?
Pulmonary disease associated with chronic bronchial infections
What is the most common bacterial infection in CF?
Pseudomonas aeruginosa
What do all CF disease causing mutations result in?
Defective cAMP-regulated Cl- secretion by epithelial cells
What is a Class I mutation of CFTR?
Impaired protein production (premature termination codons)
What is a Class II mutation of CFTR?
Affect CFTR protein processing due to misfolding (mutation in F508del and others)
What is a Class III mutation of CFTR?
Disruption in channel regulation through impaired gating (G551D)
What is a Class IV mutation of CFTR?
Decrease Cl- ion conductance through the Cl- channel
What is a class V mutation of CFTR?
Significant reduction of normal protein levels
What is a class VI mutation of CFTR?
Decreased retention/anchoring at the cell surface
What does the Cl- concentration have to be in order for a patient to have CF?
Greater than 60 mM/L
How many CFTR mutations are disease causing?
177
Class I treatment:
Aminoglycoside antibiotics
Class II treatment:
Chemical and molecular chaperones can potentially promote protein folding
Class III treatment:
CFTR channel activators (VX-770 ivacaftor)
