5/11 Flashcards
Fanconi is a defect in…
reabsorption in PCT of kidney
Bartter syndrome
aut rec defect in thick ascending loop of Henle
similar to loop diuretics
hypokalemia, metabolic alkalosis
Gitelman syndrome
aut rec defect of NaCl in DCT
hypokalemia, metabolic alkalosis
Liddle syndrome
Aut dom gain of function mutation: increase Na reabsorption in collecting tubules
presents like hyperaldosteronism- met alkalosis, hypertension, hypokalemia
treat- amilioride
sydrome of apparent mineralocorticoid excess
hereditary def of 11beta-hydroxysteroid dehydrogenase (cant convert cortisol to cortisone)
excess cortisol stimulates MR–> hypertension, hypokalemia
or eating too much licorice
renal tubular acidosis (RTA) type 1
DISTAL: defect in alpha interacalated cells to secrete H+–> no new HCO3 generated
urine pH > 5.5, hypokalemia, risk for Ca stones
causes: amphotericin B, congenital anomalies, analgesic nephropathy
RTA 2
PROXIMAL: defect in PCT HCO3 reabsorption
urine pH<5.5; hypokalemia; risk for rickets
causes: Fanconi, CA inhibitors
RTA type 4
hypoaldosteronism–> HYPERKALEMIC –> less NH3 synthesis in PCT –> less NH4 excretion
urine pH<5.5
causes:
- less aldosterone made: diabetic hyporeninism, ACEI, ARBs, NSAIDs, heparin, cyclosporine, adrenal insuff
- aldosterone resistance (K sparing diuretics, TMP/SMX)
uremia
increase in BUN
nausea, anorexia pericarditis asterixis encephalopathy platelet dysfunction
which drugs can cause acute interstitial nephritis
diuretics nsaids penicillins, cephalopsporins PPIs rifampin
renal papillary necrosis associations
sickle cell
acute pyelonephritis
analgesics (NSAIDs)
DM
SAAD
what is the type of junction in endothelial BBB?
tight junctions
cryptococcus neoformans enters via which route?
respiratory
asbestos on imaging
pleural thickening with calcification
posterolateral midlung zone (6-9th rib)
pleural effusions can occur
how does fragile x mutation inactivate the gene?
once you get over 200 CGG repeats, the gene FMR1 becomes hypermethylated, silencing the gene
Ghon complex
lower lobe lung lesion + ipsilateral hilar adenopathy (calcified lymph node)
seen in primary TB- initial infection
Bloom syndrome
aut rec BLM mutation- defective helicase
growth retardation, facial anomalies, photosensitivity, immunodeficiency
JAK kinase is a receptor for
GH, prolactin
cytokines
insulin activation pathway
1) tyrosine kinase receptor
2) phosphorylate IRS
3) IRS then stimulates two pathways:
- RAS/MAP kinase (cell growth, DNA synthesis)
- PI3K (protein phosphatase)- glycogen, lipid, protein synthesis
where on the antibody is the site for complement attachment (C1)
the higher Fc region (above phagocytic attachment site)
anesthesia’s effect on brain
decrease vascular resistance (increase cerebral blood flow)
can lead to increased intracranial pressure