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14 Cards in this Set
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There are six classes of CFTR mutations. Most common?
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Class 2: the CFTR protein is abnormally folded, and is degraded before it reaches the membrane (complete lack of CFTR protein at the membrane)
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Class 1 CFTR mutation?
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CFTR synth is defective (complete lack of CFTR protein at the membrane)
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Class 3 CFTR mutation?
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defective regulation of CFTR function (ATP can't bind and energize the ion passage, but there is an normal amt of CFTR at the apical membrane of the epith cell but it is non-functional)
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Class 4 CFTR mutation?
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Decreased conductance: the transmembrane domain is mutated, and so ions don't flow even though there is a normal amt of CFTR present at the membrane
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Class 5 CFTR mutation?
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Reduced abundance: intron splicing is messed up, and fewer CFTRs are made and thus present at the membrane
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Class 6 CFTR mutation?
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Altered regulation of non-chloride ion channels
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Which CFTR mutations produce severe CF?
Which CF phenotype are these associated with? |
1, 2 and 3 (because they cause an absence of CFTR from the membrane
classic CF: pancreatic, lung, and GI symptoms |
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What is atypical or non-classic CF?
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People who have CFTR mutations, but don't have all the symptoms of CF
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CFM1 - def?
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Cystic fibrosis modifier locus - influences the severity of the meconium ileus (small bowel obstruction) symptom of CF, but has NO effect on pulmonary symptoms of CF
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What is alginate, and what's its role in CF?
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decreased mucociliary clearance results from the low volume of surface fluid in the lungs. This is a great environment for alginate to grow, and it provides a safe haven for bacteria (immune response can't touch it). So the immune response then tears up the lungs without hurting the bacteria
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90% of CF patients have pancreatic insufficiency. What are the symptoms and results? (3)
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protein/fat malabsorption (lots of stinky poop)
Deficiency of ADEK vitamins Hypoproteinemia bad enough to cause general edema |
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MCC of death for CF patients in the US?
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cardiorespiratory complications (like pneumonia, COPD)
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Who is infertile among CF patients, and why?
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95% of males, due to missing vas deferens bilaterally
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Three ways that CF is usually diagnosed?
But what is the gold standard? |
elevated sweat electrolytes (salty baby)
characteristic clinical findings (GI problem, sinopulmonary disease) family history Sequencing the CFTR gene |
