Monday Wk 3 Endo 1 Flashcards
Familail D__ type 3 hyperlipoproteinemia
see X__ and premature __/__ disease
inherited __, most severe w other cx affecting lipoprotein metab
deficient in apoE3 and __
responsible for binding __/__ to receptors
w/out it, chylo/VLDL cannot be removed, thus blood shows high levels of __/__
Familial chylo__ syndrome type 1
defect in lipoprotein __ or ApoC2
inc levels of C__
see acute __ w lipema retinalis and eruptive __
dysbetaliporproteinemia
xanthomas, CAD/PVD
AR
apoE4
VLDL/TG
cholesterol, TG
micronemia
lipase
chylomicrons
panc, xanthomas
familial hypercholesterolemia type 2 A is defect in __ receptor or ApoB100
inc level of __
see premature _, tendon __ and xanthelasma
Familial hyperTG (type 4) is poly__ defect
inc __
assc w CAD and P and DM
ApoA1 req for conversion of cholesterol to \_\_ by LCAT def in ApoA1/LCAT results in low \_\_ and inc cholesterol
LDL
LDL
CAD, xanthomas
genic
VLDL
panc
HDL
HDL
normal thyroid follicles w colloid indicates lingual __
__ gland formed from outpoching of pharyngeal __ and descends to __ neck
lowest part forms __ w rest forming the thyroglossal duct
can be found anywhere along descent due to failed __
enlargement leads to __ sx exp w inc thyroid stim
thyroid formed by fusion of thyroid follicular cells and parafollicular __ cells
w lingual thyroid, __ does not occur
metabolism of ethanol by alcohol/aldehyde dehydro consumes __ inc NADH/NAD+ ratio
as a result, all pathways req __ are inhibited
thyroid thyroid, epithelium lower anterior thyroid migration obs
C
fusion
NAD+
NAD+
thyroid follicle cells take up inorganic __ against conc gradient using __ iodide symporter
iodide released into follicular lumen and converted to iodine by thyroid __
then binds t__ residues (Organification) in TG to form MIT/DIT
coupled to form __/__
follicles engulf __ via pinocytosis, hormones removed and TG is released
M/P are thioamide drugs
inhibit thyroid __ responsible for iodine __ and coupling
PTU dec peripheral conversion of __ to __
M__ does not
P/P are comp inhibs of Na/Iodide symporter
iodide, Na peroxidase tyrosine T4/ T3 pinocytosis
Methimazole, PTU peroxidase organification T4 to T3 methimazole
perchlorate, pertechnecate
small amnts of panc __ can leak into panc capillaries, metabolizing TG to __
this causes a __ effect on panc w inc TG levels
pt w hypoThyroid has __ TSH, __ T4 and usually __ T3
heparain admin inc __ activity
thus, if low after admin, think familial __ syndrome
Glucose diffuses across cell membranes via __ mediated transport for facilitated diffusion
GLUT enzymes are stereo__ for D-glucose
GLUT4 is found in __ muscle and Adipocytes
stored in __ vesicles, and binds to surface w high insulin
__ aids in export of glucose from liver/SI/kidney into circ
helps to control __ sec by panc
lipase, FFA
toxic
high, low, normal
LPL
chylomicronemia
carrier selective skeletal cytoplasmic GLUT2 insulin
PPP is main source of __
necessary for cells w high __ stress to maintain integrity
organs such as L/AC involved in FA/cholesterol/steroid synth
resp burst via __ oxidase
G6PD generates NADPH and R5P via __ rxns
nonoxidative reactions produce __
pt w thioamides and fever/sore throat, oral ulcers, signs of infections need __ count and discontinued drug
both M/P have risk of __
PTU can be used in thyroid storm due to inhibition of __ conversion of T4-T3
M is preferred due to severe __ risk w PTU
Avoid __/__ NSAIDs as they can displace T4 from TBG
NADPH
oxidative
liver/adrenal cortex
NADPH
oxidative
energy
WBC
agranulocytisis
peripheral
hepatotoxicity
ibuprofen/aspirin
Central DI is due to damage to the __ w low ADH prodxn
synthesized in P/S nuclei of hypothalamus
can have __ dysfxn, but this will resolve w time
anterior pituitary releases hromones from __ eminence via hypothalamic/hypophyseal portal vssels
majority of thyroid hormones are bound to __ w some to transthyretin/albumin
inc __ raises TBG levels, w reduction in free T4
this causes transient inc in __ prodxn to saturate TBG, w inc total T4
free T4 remains __ and pt is euthyroid
hypothalamus
paravent, supraoptic
PP
median
TBG
estrogen
thyroid hormone
normal
pt w longterm GC use has __ of entire HPA axis
see bilateral cortical __
stopping GC can result in life threatening adrenal __
inc risk for C__
most prostate cancer is __ dependent
rx w surgical __ or pharm suppression of __ prodxn
L __ is GnRH analog
initially causes rise in __ and testosterone, but over time leads to dec __ by Leydig cells
__ def presents w intro of fructose into the diet (HFI)
V and hypoGly w intracellular accumulation of __
depletes inorganic __ inhibiting glycogenolysis/gluco
FtT/HSM/J w liver/renal failure
tx w removal of __ from diet
F__ is AR do of impaired fructose metabolism
released into __
suppression
atrophy
insufficieny
CAD
androgen
orchiectomy, testosterone
Leuprolide
LH, prodxn
Aldolase B fructose 1 phos phosphate jaundice fructose
fructokinase
urine
__ stim test can indicate HPA integrity
metyrapone blocks __synth by inhibiting 11B hydroxylase
converts 11deoxycortisol to __ in ZF
does not inhibit __ so it should be high if HPA works
inc levels of __ and 17OHCS in urine
Metyrapone also blocks __ synthesis, but 11-deoxycortisone has some __ activity, so RAAS is not affected
TPO catalyzes __ of Iodide to Iodine, iodination of TG __ residues, and coupling rxn for __/__
antibodies seen in __ dz
metyrapone cortisol cortisol ACTH release 11-deoxycortsol
aldosterone
MC
organification
tyrosine, T4/T3
Hashimoto
Carbamezeipine/Cyclophosphamide, SSRI can all cause __
ADH/oxytoxcin synth by M_ neurons in hypothalamus
packaged into vesicles and travel via __ transport to PP (N__)
terminate in __ bodies in vesicles w neurophysins involved in postranslation processing/stabilization
hormones/ neurphysin secreted into __ vein & systemic circ
Regular insulin has \_\_ effect after ingestion does not work w \_\_ peak in BG due to d\_\_/hexdimer formation \_\_ acting insulin overcomes this L/A/G are preferred for post prandial
G__ is long acting and does not have peak
crystallizes in _ tissue
D__ is long acting w FA side chain
lasts around __ hrs
SIADH magnocellular anterograde axonal neurohypophysis herring hypophyseal
delayed postprandial dimer rapid lispro, aspart, glulisine
glargine
subQ
detemir
24
Subacute granulomatos thyroidits onset after \_\_ illness \_\_ thyroid enlargement transient \_\_ sx inc ESR/CRP but \_\_ radioiodine uptake inflamm infiltrate w macros and \_\_ cells
Hashimoto aka chronic \_\_ hypothyoid \_\_ etiology painless thyroid \_\_ always \_\_ thyroid positive \_\_ antibody lymph infiltrate w well developed \_\_ \_\_ cells aka eosinophilic epithelial cels
Papillary thyroid ca hs branching __ structures w concentric Ca (psammoma body)
see follicular __ w nodular enlargement
__ thyroiditis caused by fibrosis of thyroid gland
gland is __ and nontender
viral painful hyperthyroid dec giant
lymphocytic AI enlarge hypo TPO germinal centers hurthle
papillary
hyperplasia
reidel
hard
in acid __ def (pompe dz), glycogen will accumulate in __
caracts cause loss of __ reflex
seen w age, excessive __ exposre, DM and __ use
DM has saturation of __ pathway, as sorbitol builds up and cannot be converted to __ by sorbitol dehydro
accumulates in lens/retina, K and PN
results in o__ stress, w hydrobic lens fibers __ w opacification
glucose converted to sucrose by __ reductase
maltase, lysosomes
red sun, GC polyol fructose kidney, PN oxidative degen
aldose
TZD cause fluid retention by inc sodium reabsorption in renal __
worse when given w __
agranulocytosis can occur w __
flesh colored nodules on lips/tongue are likely mucosal __
unencapsulated, thick proliferations of __ tissue
can also see intestinal __ w MEN2B
RER produces secretory/lysosomal/integral membrane __
w posttranslation mod, they are passed to __ via COP 2 coated transport vesicles
SER necessary for steroid/__ biosynth
well developed in steroid porducing cells like __/_/__
collecting tubules
insulin
SFU
neuromas
neural
ganglioneuromas
proteins
golgi
phopsholipid
adrenals, gonads, liver
pt w severe hypoTN, refractory shock, ab pain, vomiting, weak, fever most likely has __ crisis
commonly seen w __ cx in setting of stressors
tx w fluid __ and __ admin
__ disease is AR due to sphingomyelinase def
accumulating sphingomyelin causes large, foamy cells w __
pt has neurologic __ and cherry red macula
inc risk of rare gene defects in pop known as __ effect
lost genetic varability w conceiving in ___
adrenal
AI
resus, GC
NP
HSM
degeneation
founder
community
__ dz is caused by bglucocerebrosidase def
__ accumulates
HSM, pancytopenia and __ pain
__ is def in a l iduronidase
__/__ sulfate accumulate
leads to dysostosis multiplex w enalrged __ and abnroaml __/__ and corneal clouding
__ dz is a galactosidase A def
G__ accumulates w neuropathc pain/angiokeratomas and organ involvement
inherited __
small stture, infertility, predisposition to malig w suc screen facial rash is __ syndomre
AR disorder w __ instability
gaucher
glucocerebrosiade
bone
hurler syndrome
heparan/dermatan
skull, ribs/vertebrae
Fabry
GB3
XLR
bloom
chromo
__ disease is AR def in neutral AA transporter
cannot transport neutral AA in __/__
trytophan is essential AA for N/S/M
conversion to Niacin is necessary for forming __ in redox rxns, thus def is problematic
pt has __ like skin rxns upon sun exposure and cerebellar __
dx w neutral ___
tx w high protein diet w __ supplementation
__ def can be seen as sore throat, stomatitis, glossitis, normocytic anemia and seborrheic derm
important in __ transport
Hartnup SI, proximal tubules niacin, serotonin, melatonin NAD+ pellagra, ataxia amino aciduria niacin
Riboflavin
electron
insulin is synth in panc b cells as ___insulin, and taken to RER by signal seq
converted to __ and taken to Golgi, and released in secretory granules
converted to mature __ and C peptide, secreted by B cells
C peptide does not undergo __ metabolism by liver as insulin does
can be measured for endogenous __ secreting capacity
M/S inc insulin sec, thus can upregulate __ sec
prepro proinsulin insulin first pass insulin meglinities, SFU, C peptide
GLP1 agonists E/L inc glucose dep __ sec, dec glucagon/gastric emptying
SE is P
DPP4 inhibs gliptins inc endo __ and __ levels
SE is N__
Biguanides like M__ stimulates __ to dec gluocse prodxn
BCAKD req T/L/C/F/N as cofactos
disorders of urea cycle req __ as essential AA
w hyperammonemia, arginine produces __ intermediates that lead to nitrogen disposal
exenatide, liraglutide
insulin
panc
GLP1. G1P
nasopharyngitis
metformin, AMPK
thiamine, lipoate, CoA, FAD, NAD
arginine
water soluble
Primary hyperaldosteronism has bilateral adrenal __ or unilateral adrenal __
sx include HTN, hypokalemic __ w muscle weakness/paresthesias
does not have volume expansion due to aldo __
hypokalemia due to H secretion by __ cells
promotes __ reabsorption by basolateral HCO3/Cl exhanger
thus, __ levels are high
aldo escape means __/__ levels are normal
due to upregulated release of _ w natriruesis
well defined __ tumor of AC occurs, produces hormones depending on zone
MEN1 caused by mutation in __ gene for menin
hyperplasia, adenoma
alkalosis
escape
a intercalated
HCO3
HCO3
Na/volume
ANP
yellowish
MEN1
Neurophysin 2 has binding site for __ and is involved in packaging/transport through RER/golgi
mutation can result in abnormal protein __ and removal, dec release
may lead to AD form of hereditary hypothalamic __
TRH stimulates release of __ and __
Screen for endogenous cushing w low dose __ suppression and late night salvary __ or 24hr urinary __
in normal pt, dexamethasone will suppress __/__
ADH
folding
CDI
TSH, prolactin
dexamethasone, cortiol, cortixol
ACTH, cortisol
w pituitary overprodxn, cortisol is not suppressed w low D but is w __
ectopic ACTH prodxn will have high __ in response to dexa
cushing syndrome due to adrenal adenoma/carinoma or exogenous will have __ ACTH
Radioactive I131 is taken up by __ and results in radiation induced __thyroid or thyroid carcinoma
to tx, give ___prophylactically
Na/iodide symporter takes all forms of iodide, thus it can be __ inhibited
elevated serum iodide can also inhibit iodine __ via Wolff Chaikoff effet and reduce T4 release
high dose
ACTH
low
thyroid gland
hypo
KI
competitively
organification
myoedema is focal __ of muscle following percussion in hypothyroid
seen w myalgias, __ muscle weakness and cramping
may precede hypothyroid, so get __ levels to dx
CKMB present in __ tissue
CKBB present in _ tissue
CKMM present in __ tissue
mounding
proximal
TSH
cardiac, CNS, skeletal muscle
GC induced myopahty has proximal MW and __ w/out pain
__ extremities more involved
CK is __
Polymyalgia rheumatica has muscle pain and __
worse in __ and w activity
CK is __
Inflam myopathy (dermato/polymyositis) has skin \_\_ and inflam \_\_ CK is \_\_
Statin myopathy has proxmial muscle pain/weakness after using __
CK is __
arophy lower normal stiffness, morning normal
rash, arthritis
inc
statins
inc
prolactin is neg regulated by __ binding D2 receptors on lactotrophs
positive reg via __/__ on lactotrophs
can be a result of __ lesion affecting the pituitary stalk
other hormones are __ by the hypothalamus
thus, damage results in __ levels
dopamine
TRH, VIP
sarcoid
stimulated
dec
