Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
10 Cards in this Set
- Front
- Back
|
relation between pancreatic sufficiency and pulmonary disease severity
|
pancreatic sufficiency may be associated with a less severe pulmonary phenotype
|
|
|
CFTR and TGF-β1 relation
|
no correlation between specific CFTR mutations and lung disease, BUT, there is an association between the severity of lung disease in CF patients and variants of TGF-β-1.
|
|
|
CFTR and IRFD1
|
Variation at IRFD1 (5Mb from CFTR) associated with neutrophil effector function and, hence, CF lung function
|
|
|
R117H paired with ΔF508 results in
|
CBAVD in 10% of males
|
|
|
R117H + 5T variant of CFTR gives
|
PS CF
|
|
|
R117H + 7T variant of CFTR gives
|
pancreatitis but normal appearance.
CBAVD in males. |
|
|
5T (w/o R117H) in trans with another CFTR mutation can cause:
|
- CBAVD ~60%
- NOTHING! ~40% - Atypical CF < 1% |
|
|
ΔF508 / 5T
|
CBAVD
|
|
|
ΔF508 / R117H+7T
|
CBAVD
|
|
|
ΔF508 / R117H+5T
|
PS CF
|
