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30 Cards in this Set

  • Front
  • Back
what is the most common single gene letahl disorder among caucasians
cystic fibrosis
how is cystic fibrosis inherited
autosomal recessive
what organ systems are effected in cystic fibrosis
lung, exocrine pancreas, GI, sweat glands, reproductive system
if a patient has a family history of cystic fibrosis, what else must be analyzed to confirm CF
increased sweat electrolyte concentrations
what is the primary defect in cystic fibrosis
defective cloride channel of epithelial cells of affected organs
sweat glands contain ___ epithelial cells in the coil and ___ cells in the duct
secretory/absorptive
what part of the sweat gland lacks cystic fibrosis transmembrane conductane regulators that is usually a sign of CF
ductal absorptive cells
according to the high salt theory involving airway epithelia of CF, a greater than normal concentration of NaCl would lead to
ingibition of natural antimicrobial activity in lung
according to the low volume theory of CF, chloride is absorbed by non-CFTR mechanisms and the sodium channel is hyperactive leading to...
dehydration of lung secretion
in the exocrine pancrease what happens to the pancreas
occlusion of ducts
if a child is born with CF, there maybe problems with the small intestine due to...
inability to pass meconium (intestinal blockage in first day or two of life)
what is thought to cause infertility in CF patients
thick secretions
CFTR is a unique member of what transport protein family
ATP Binding Cassette
what must happen to the regulatory domain of CFTR channel
it must be phosphorylated
if ATP binds to NBD1 the channel will ____, but if it binds to NBD2 the channel will ____.
open/close
a single mutation in the CFTR gene will cause CF (most commonly), this is known as delta F508, but what amino acid is not present
Phenylalanine
a defective protein production of CFTR is known as...
Class I mutation
a defective protein processing of CFTR is known as...
Class II mutation
defective regulation of CFTR is known as a...
Class III mutation
defective conductance of the CFTR is known as...
Class IV mutation
Reduced levels of "normal" CFTR is known as...
Class V mutation
what effect does aerosolized rhDNAse have on a patient with CF
reduces DNA from lysed bacteria and WBC's in lung
what is the name of the drug that can overcome Type I mutations which involve premature stop codons
Gentamicin
what drug helps to overcome Type II mutations by binding to the deltaF508 CFTR and allowing it to be more efficiently tranported to the plasma membrane
CPX
what drug interferes with the normal chaperones which target deltaF508 for destruction, allowing more of it to be expressed at the plasma membrane
Curcumin
what drug improves expression of CFTR by decreasing expression of some protein trafficking genes
phenylbutyrate
what can be given to increase cloride conductance by deltaF508 CFTR
milrinone
what drug increases chloride channel activity by CFTR
genistein
what drug, presently in clinical trials, inhibits EnaC and stimulates calcium dependent chloride channels in lung
P2Y2
gene thrapy is thought to be most prmising by using what type of vector
liposomes