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18 Cards in this Set

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Congenital proximal RTA?
renal tubular acidosis - mutated Na/HCO3 exchanger or CAii in proximal tubule
Fanconi Syndrome? Triggering factors?
non-specific injury to proximal tubule - heavy metal, amyloidosis, multiple myeloma, ifosfamide (chemo agent) -> glycosuria, aa-uria, phosphauria
What's acetazolamide?
Diuretic; inhibits carbonic anhydrase in proximal tubule -> inhibits NHE3 -> decrease Na reabs
What's furosemide?
Diurectic; inhibits NKCC -> decrease K recycling -> can cause vol. depl. -> aldo -> alkalosis.
Bartter Syndrome?
auto rec defect in NKCC in thick ascending limb (TAL)
Gitelman Syndrome?
defective Na/Cl exchanger in DCT; vol depl -> aldo -> alkalosis, K wasting;
hydrocholorothiazide?
diuretic. inhibits Na/Cl exchange in DCT; to increase [Na]i -> increase Ca++ reabs from urine (via Ca/Na exchanger) -> used to treat nephrolithiasis
amiloride?
diuretic. inhibits ENaC in collecting duct -> decrease pos charge in cell -> decrease K efflux -> hyperK (not very potent)
spironolactone?
diuretic. inhibits aldosterone R in collectin duct (antagonist) -> decrease ENaC -> decrease pos charge in cell -> decrease K efflux -> hyperK
Addison's disease?
adrenal insuff.; decreased aldosterone production (hypoaldo) -> decrease ENaC in CD -> decrease pos charge in cell -> decrease K efflux -> hyperK, hypotension (vol. depl. due to decreased salt abs)
Conn's syndrome?
adrenal adenoma, hyperaldosteronism -> hypertension, hypoK (cos of high ENaC act -> in. K efflux in collecting duct.
Liddle syndrome
pseudohyperaldosteronism, caused by impaired breakdown of ENaC in CD; low aldo, but high ENaC act -> high K efflux -> hypertension, hypoK
What's a common side effect of diuretics? (esp loop/PCT/DCT)
vol. depl. causes increase in aldo -> higher ENaC activity/number, higher Na/K exchanger act -> higher K efflux -> hypoK and alkalosis (kidneys try to reabs K by up act. of K/H exchanger -> more H pumped out
what is Zollinger-Ellison syndrome?
increased production of gastrin -> in. stomach acid
what's p53 and what does it do?
tumor suppressor;
triggers apoptosis in response to DNA damage;
also activates txn of p21 (cdk inhibitor, inhibits cyclins E, A, B -> arrest in G1);
HPV E6 binds p53 to inactivate it
what's pRB and what does it do?
binds E2F to stop it from + txn of G1/S phase genes;
pRB phos by cyclinD/Cdk4/6 -> phos-pRB no longer binds E2F
what's the role of APC in colon cancer?
adenomatus polyposis coli gene; mutated in 80% colon cancer; normal role to bind to and inhibit b-cadhenin from going to nuc to + txn of Wnt genes (e.g. c-myc) for proliferation;
APC forms complex with GSK3. complex needs to disso for b-cad to enter nuc.
what are the intrinsic and extrinsic apoptotic pathways?
IN: apaf1, cytochrome c, caspase 9 form apoptosome -> + other caspases (Bax opens MT gate to let cyto c out; Bcl2 closes gate; Bcl2 implicated in B cell lymphomas)
Ex: Fas ligand (on lymphocytes) -> Fas R -> FADD (adapter) -> cleaves and + caspase 8