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197 Cards in this Set

  • Front
  • Back
AA metab disorder
PKU
MSUD
HCY
TYR I
mc and preventable cause or mental retardation
inability to prod thyroid homr > cretinism
life long thyroid replacement
Congenital hypothyroidism
steroid biosynthesis > decr cortisol prod and aldosterone
21-hydroxylase def
> salt wasting
Adrenal hyperplasia/ adenogenital synd
def. in active transport molecule responsible for reabs a.a. from PCT > incr in urine
Cystinuria and Hartnup
Renal aminoaciduria
lack of transport molecule for COL(lysine)A
> colorless hexagonal cysteine crystals in acidic urine
Cystinuria
def in active transp molecule for reabs of a.a. from PCT
> incr aa in urine
Hartnup synd
incr blood conc due to def in metabolic pathway of aa
incr conc in urine and plasma
PKU
Tyrosinemia
Alaptonuria
Albinism (phe)
MSUD
Homocystinuria
Overflow aciduria
phenylalinine-hydorx def (req to convert phe > tyrosine)
incr conc in plasma and urine
> abn metabs in urine= phenylketones
musty odor
elim phe from diet
Guthrie test
PKU
bact growth = incr phe in serum
> 6mg/dL , diet restriction
Guthrie
PKU
incr tyrosine in blood
disorer of phe pathway
Tyrosinemia
homogentisic acid oxidase > build up pf HA > black depositis in cartlige
phe pathway
Alkaptonuria
absence of tyrosinase (tyrosine> melanin)
phe pathway
Albinism
branched chain aminaciduria
ketoacid decarboxylase def (for metab of leu, isoleu, val)
dietary restricts dont work
MSUD
cystathione synthase def (homocystine> cystathione)
effects methionine regen
give folic acid and B12
Homocystinuria
Carb abns
Galactosemia
GSD
def of enzyme requ to convert galactose>glc
> accuml of galactitol= neurotoxic
Clinitest
Galactosemia
enzyme def and accuml of glycogen in liver and skel muscle
GSD
G6P def
glycogenolysis, hypohlc, growth retardation, ketosis, Lactic acidosis, hepatomegaly
GSD 1
other def
milder sympts
incr glycogen in skel muscle
GSD II, V, VII
liver form
GSD III, VI
severe liver form
cardiac and skel muscle
GSD IV
def in enzymes resp for metab of f.a.
lipid abn
abn lipid storage \body cant utilize stored fat
glycolipid def
def transmembrane protein
> viscous secr, lung disease, pancreatic insuff
incr in Cl sweat test
CF
for CF
uses pilocarpine
> 60 = CF
N= >35
Sweat Cl test
chemical is drug if
it is selective for site of action
reversible
prod theraputic/toxic effect
minimum
lowest conc that will prod response
MEC
lowest conc that will prod an adverse resp
MTC
TI=
MTC/MEC
plasma level =
tissue conc
peak dosent equal conc in tissue, only after 8 hours
Digoxin
peak conc of drug is <MTC and trough is > MEC
Steady state
constant dose given every 1/2 L after 5-7 doses
steady state
thet route the drug follows from into to prod of resp
drug disposition
removes xenbiotics
liver
most drugs
passive distribution
distrbution effects
pH
binding to plasma proteins
only __ drugs are lipid sol
nonionized
equ for weak basic drugs
pH=pK + log (nonion/ion)
equ for weak acid drugs
pH=pK + log (ion/nonion)
if pH>pH = ion
if pH< pK = nonion
for acidic drugs
if ph>pK = nonion
if pH,Pk = ion
for basic drug
abs easier
acid than base drug
are transported easily incirc with no carrier protein
water sol drug
trans protein for acid drug
albumin
carrier protein for basic drug
alpha 1 gylcoprotein
major site is liverminor site = kidney, brain, lungs, skin, GI
biotranformation
rxns metabolize lipophilic drugs to more polar forms to facilitate renal excr
by redox rxn
cytochrome P450 in smooth ER undergo redox that inactivates drugs
metab product are biologically active
Phase I
for polar drugs
rxn= conjugation
conjugates are water sol and can be excr by kidneys
drugs are metab according to 1st order
Phase II
if conc is within capacity of detox/conj rxn
1st order
dep on conc
excr through kidneys
water sol drugs
secr through bile
lipid sol, polar drugs
clearance=
Vd x kelim
Vd=
dose/imm plasma conc
Kelim=
0.693/t(1/2)
75% free
from digitalis plant
improv contract by effecting Na/K/ATPase pump
for CHF
Digoxin
antiarrythmic
for AMI
compl metab in liver> 2 metabs
Lidocane
antiarrythmic
metab in liver> NAPA
Procainamide
antiarrythmic, myocardial depressant that lowers hearts ability to conduct current
metab in liver > 3 hydroxyquinidine
Quinidine
treats for gram neg bact
Aminoglycosides
for gram pos bact
Vancomycin
antiepileptic drugs
Phenobarbital
Pheytoin
Valproic acid
Carbamazepine
Ethosoximide
Psychoactive drugs
Lithium
TCA
Bronchodilator
Theophylline
Immunosupp
Cyclospoine
Tacrolimus
tox of 6
<5 mg/kg
tox of 5
5-50 mg/kg
tox of 4
50-500 mg/kg
tox of 3
0.5-5 g/kg
tox of 2
5-15 g/kg
tox of 1
>15 g/kg
low TI
assume subs is present
need quant result
invasive (blood)
slow TAT
metab may interfere
expensive
TDM
screen
qualitative
noninvasive(urine)
fast TAT
can detect metabs
cheap
Toxicology
is toxic to 50% of population
TD50
ASA
analgesic
interfers with plt aggr and gi
overdose> resp alkalosis
-incr lactate
->ketoacids>metab acidosis
mixed acid/base disorder
>500 = lethal
Salicylate, Aspirin
Measure Salicylate
Trinder rxn, purple color
anagesic
overdose> hepatotoxicity (necrosis)
metab and conj by liver
damage is 3-5 p.i.
>150 @ 4 hrs is toxic
liver can conjugate acetamidoquinone (intermediate) by glutathione
Acetaminophine
Tylenol
Acetominophine overdose>
incr N-acetylbenzoquinoneimine (conj by glutathione)
hepatic necrosis
Antidote = NAC ( to incr cystine)
200-250 more affinity for Hgb
N= 0-5% COHgb
smoker <15%
70-80%= lethal
CO
CO measurement
Spot CO check, bright red blood
most common
metab by liver
nonpolar
metab by alcohol dehydrog (redox) > acetaldehyde and acetate (2nd)
200-400= unconcious
.1g/dL= toxic
Ethanol
treat other alcohols with
Ethanol
alcohol testng
ADH method
measure abs
pos for Ethanol, neg/low for methanol and isopropanol
OG
incr ____ for every 60mg/dl of Ethanol
10 mOsm/kg
OG for other than ethanol
1.86(Na) + glc/18 + Bun/2.8 + ETOH/5
toxic at 300 mg/dL
Ethanol
toxic at 200 mg/dL
Isoprpanol
toxic at 50 mg/dL
Methanol and EG
incr osmol
normal pH
no acetone
Ethanol
incr osmol
normal pH
acetone pos
Isopropanol
incr osmol
decr pH
Methanol
incr og
metab acidosis
incr AG
oxalate crystals
renal impairment
EG
with carrier gas
mobile phase
collects cooked particle
pre column
oven column
high temp
liquid stationary phase
detector
FID
time form injection of dample to peak vol in FID
Rt
quantitate peak by
comapring calibrator peak with sample peak
errors in GLC
change in flow rate (mobile), oven temp (liquid), volt of FID
alcohol effects from Ethanol
hypoglycemia if fasting
>ketoacidosis
hepatomegaly due to trig accuml from metab of ethanol instead of fa
diag of chronic alcohol abuse
incr plasma uric acid, ggt, and trigs
methanol>
formaldehyde>formic acid
severe metab acidosis, pancreatic necrosis and visual
isopropanol>
acetone
EG>
formic acid, glycolic acid, oxalic acid
renal failure
poor nutrition in alcoholics >
decr folate
decr Mg and Ca
decr phosphate
1 unit of alcohol =
10 ml ETOH = 8g ETOH
sedative, depressant
Phenobarbital-epilepsy
Treatment, aid respiration and cardiac
replaced by benzodiazepine (metab is oxazepam)
Barbituates
opium, morphine, codeine
sleep and pain relief
supress CNS, decr resp, coma
heroin is metab by liver> morphine and excr by kidneys as glucuronide
Treat with Naloxone
Narcotics
organophosphates
inhibs acetylcholinesterase>effects heart and lungs, cramps, CNS
measure isoenzyme. pseudocholine
Pesticides
CNS stim, blocks dopamine receptors
treats narcolepsy and ADD
metab in liver> benzoic acid
heart probs if overdose
Amphetamines
local anesthetic and CNS stim
short 1/2 L
metab by cholinesterase > benzoylecognine (inact)
excr by kidneys
Tox= hyperten and MI
confirm with GCMS
Cocaine
THC
urinary metab = THC-COOH
Cannabinoids
anesthetic and hallucinogen
violence, seizures, resp, death
PCP
neonate renal dev
glomerular and tubular dev over 1st 2 years
GFR is decr in neonates and incr over time
poor reabs of water and electrolytes > hemoconc
neonate hepatic dev
> neonatal jaundice
incr total and unconj bili
no UDP-G prod > jaundice
Crigler-Najjar
neonate Endocrine dev
by Hypothal, pituitary, thyroid/adrenal
primary and secondary probs
congenital hypothyroidism
default in thyroid (primary)
secondary hypothyroidism
pituitary wont sercrete TSH
neonate adrenal probs
21-hydroxy def> decr aldosterone and cortisol prod
>hypernatremia and decr glc
if TDM is < 2
the liver metabs slower
if TDM is >2
liver metabs 2x faster
geriatric changes
decr water, muscle, bone density, organs fnx
incr lipids (chol and trigs)
incr in Geriatric pts
K
LD
CK
GGT
AST
ALP(women)
BUN
pCO2
Glc
TSH
uric acid
decr in geriatric pts
albumin
pO2
bili
T3
growth hormone
CrCl
stays the same in geriatric pts
Cl-
free T4
Na
insulin
pH
TDM and the elderly
elimination probs
decr renal mass and blood flow
decr GFR
> overdose
CSF
150 ml in adults
prod and reabs at 500 ml/day
formation bu ultrafiltrae of plasma and active secr by epithelial membs
CSF fnxs
cushion for brain
maintains constant chem environ
removes metab products
CSF is
mostly water
40-70 mg/dl glc
.02-.04 protein
280 Na
decr glc in CSF with incr lactate
bact inf
protein in CSF
incr in inf = blood brian barrier inf
done by electrophoresis
incr in prealbumin
serous fluids
pleural
peritoneal
pericardial
parietal memb
lines cavity wall
visceralmemb
cover organs
disruption of seros fluid > increase in vol> effusion
caused by
effusion
caused by incr in hydrostatic pressure in pericardial fluid
CHF
caused by decr oncotic pressure
hypoprotein
caused by incr capillary perm
inflamation and inf
systemic disorder that disrupts balance in reg of fluid filtration and reabs btwn serous membs
transudate
cond that directly involves teh memb of the cavity
infs and malignancies
exudate
clear
<1.015 spg
<.5 protein
<.6 LD
transudate
cloudy
>1.015 spg
>.5 protein
>.6 LD
exudate
> 60 chol
fluid:serum chol >.3
fluid:serum bili >.6
pleural exudate
caused by cirrhosis/hepatic>transudate
bact inf> exudate
serum:ascites albumin >1.1 = transudate
peritoneal
change in perm of membs due to inf, etc
cardiac compression
pericardial fluid
clear pericardial exudate
metab disorder
turbid pericardial exudate
inf or mailg
milky pericardial exudate
lymph damage
bloody pericardial exudate
memb damage
incr bloody pericardial exudate
cardiac punct
TP
TP(fluid)/TP(serum)
LD
LD(fluid)/LD(serum)
TP <.5 and LD <.6
transudate
TP >.5 and LD > .6
exudate
incr aldosterone
decr renin
incr bp
decr K > incr pH
adrenal tumor
incr Na (incr water) > incr bp
Conn's
primary hyperaldost
decr TSH, testosterone, T4, FSH, LH
incr prolactin
a.p. tumor
Prolactinoma
hypothal tumor (tertiary)
decr K, caused by incr aldosterone due to 11beta def
incr glc, pH, HCO3, cortisol
incr ACTH
tumor on pit or in lungs
Cushings
secondary (a.p.)
chronic pheumonia
incr sweat cl
P. aeruginosa in sputum
confirm with RFLP
CF
incr trips
incr temp
decr bp
incr neuts
incr chol, trigs
decr HDL
incr Amylase, lipase, CRP
incr Na, Ca
decr K
Pancreatitis
decr Cl, HcO3, pCO2, pH
incr BUN,Osmol
pos for ketones
OG and AG incr
Salicylate
incr bp, pulse, resp rate
incr CO2, glc, VMA (due to incr catecholamines)
decr Na, Cl, CK
headache, diaphoresis, palpitations
Pheochromocytoma
AF
ultrafiltrate of moms plasma
has plasma values for electrolytes, urea, cr
mature AF
incr urea, uric acid, and CR
incr pulmonary lipids
incr protein and hormones
300-1500 ml
low AF level
oligohydraminos
incr AF
polyhydraminos
HDN
monitored by AF A450
incr bili in af
> fetal anemia> erythropoiesis> incr unconj bili due to incr conj by liver
meconium spectro
peak at 400-405 nm
hgb spectro
peak btwn 400-450
liley chart
compares A450 to determine intrauterine hemolysis
zone III is worst
can be given to delay birth
cortisol
PG
>2 mg/l = low risk for RDS
amniotic surfactant to albumin ratio
>50 = mature
storage form of surfactant
count= surfactant present
>30000 = mature <10000 = RDS
LBC
ONTD
spina bifida
encephalocele
anencepha
neural tube doesnt close
spinal fluid seeps into AF and gets absorbed into moms plasma
spina bifida
protrusionof brain through abn opening in neural tube
Encephalocele
fetus doesnt devl a cerebrum
anenecepha
ONTD detected by
incr AFP by babies liver
in moms plasma
in second trimester
transport protein sim to albumin
transports subs that arent water sol (steroid hormones, vitamins, libids, bili)
large mol weight
AFP
result reported in MOM = how many times normal
<2 MOM is normal
incr in 90% of ONTD
folic acid def
amniotic fluid AFP
trisomy 21
congen heart probs
retardation
facial profile
decr MSAFP, unconj estriol
incr chorionic gonadotropin
def test is fetal karyotyping
Down synd
> ONTD and death
same results of DS
def test is karyotyping
Trisomy 18
formed btwn amniotic sac and uterine wall
detect in moms cervix
negative = delivery is unlikely
pos = delivery soon
fetal fibronetin
aa def
in liver
tyrosinemia
test for alkaptonuria
urine will be dark upon standing or with an added base (alkaline urine)
GALT def
def of G-1-P-U
Galactosemia
Screening for DOA
is 1st step
qualitative
immunoassay
confirmation for DOA
use a different method
specific and sensitive
CO is measured
spectro at 4-7 lambdas
IS
corrects for probls in GLC
pure liquid
not in sample
in pesticides
binds protiens
cleared through renal
gi sympts
Arsenic
organic
inhalation or ingestion
kidney, gi, neuro
treat with chelators and peninilamine
Mercury
Paint and soil
Inhibits enzymes
Effects vit D metab
Causes change in bone and Ca metab
Decr conc of 25-hydroxy and 1-25 dyhydroxy Vit D
Decr Heme synthesis
Incr urinary ALA
Basophilic stippling
Treat with chelators and penicillamine
Lead
How Lead effects heme synth
inhibs PBG synthase and ferrochelatase
> incr ALA and protoporphyrin
>incr Zinc in RBCs
Ability of surfactants to prod foam with addition of ethanol
FSI shake test
At puberty
GnRH decr and no longer inhibs FSH and LH
Males prod incr androgens and females prod incr progesterone and estrogen