Cystic FIbrosis Flashcards
CF Patients do not have affected
Brain, kidney
Basically everything else affected
Gold standard for diagnosis of CF
Sweat test
CFTR gene structure
Long arm of chromosome 7
Mutations where we have therpaies that will help
G551D
R560T
Both type 3 where receptor does not get to the membrane
Severe classes and moderate classes
1-3
4-6
If you have delta 508 mutation and have another mutation, what determiens severity?
The other mutation…if class 1-3, then severe
***Need 2 severe mutations to have severe CF
Class 2 CFTR
CFTR trafficking defect
Frequency of deltaF508 mutation in caucasian
70%
Male most sensitive CFTR organ
Vas deferens…leads to sterility
CBAVD
Conginenital bilateral absence of the vas deferens (only need 10-15%)
Least sensitive of organs to CF
Pancreas…just need a little functional CFTR…if hetero for deltaF508, then 98& are pancreatic insufficient
Sweat chloride higher in which classes
1-3 = more severe
Something that plays large role in survival of CF patients
Pancreatic sufficient live almost 2X as long (50 vs. 30)
Other factor that could influence cystic fibrosis besides environmental
Could be little genetic difference in other genes
CF is most common
Life shortening genetic dz in the Caucasian population
Carriers for CF are
Quite healthy…may have a survival advantage…less likely to die from cholera and other types of GI dz
Diagnosis of CF category 1
More than 1 typical phenotypic featurs
Sib with CF
Positive screenign test
Diagnosis of CF cateogry 2
Elevated sweat twice
2 ID’d CFTR mutations
Abnormla nasal potential difference
CF often mistaken for
Asthma
IRT
Immuno reactant trypsin…elevated in infants with CF
Most states do what kind of test
IRT/DNA
If IRT is elevated, send same spot of blood off and look at DNA for common mutations
IRT/IRT didn’t work because
IRT can be elevated from high stress symptoms
Common GI CF
Bowel obstruction (meconium ileus)
Most CF patients die from
Lung dz
