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39 Cards in this Set
- Front
- Back
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why do we see hereditary Hemochromatossi less thatn CF?
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decreased penetrance
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what is the carrier rate of Hchrome?
homo? symptoms |
1 out of 9
1 out of 250 10% of homo |
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what is the classic triad for HHChrome?
other maifestations? |
bronzing skin
liver diease diabetes fatigue maliase arhtritis 2nd 3rd MCP hypogonad: iron in gonads restrictive heard disease bc iron in heart |
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why is phleobtomy helpful?
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it can prevent symptoms
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where is iron absorbed?
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in duodenu by cells of villi, through DMT1 channel not a gated trnasport
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what does ferroportin do?
what happens if you dont have FPN? |
helps transport iron from enterocyte into ciruclation
w/o it, iron builds up in enterocytes and they are sloughed off in stool |
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what does hepcidin do to FPN?
where is hepcidin produced? |
neg regulator: turns off aborption of iron
prod in liver |
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what causes anemia of chronic disease?
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up reg of hepcidin during times of inflamation: leads to down reg of FPN and iron absorption
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what does HFE protein do?
what happens if abonormal? |
HFE upregs hepcidin
if abnorm, cant do it: leads to hemochromatosis, body keeps absorbing iron |
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what is the most important mutation test for HFE?
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C282Y mutation
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how much iron does a normal/HHchrome person absorb?
when does disease start? |
normal 1-2 mg
HFE: 3-4 disease present later 40-50 20-30 see eleveated iron or liver transaminase |
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how did we test for Hchrom before genetic test?
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liver biopsy prussian blue stain
blue: iron under recog bc biopsy invassive, low penetrance |
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what does an opaque liver on MRI indicate?
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eleveated iron deposition
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how does iron cause hepatic tox?
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iron cat free rads: lipid peroxidation: damages cell membranes
actiates hep stellate cells: collagen formation: fibrosis also interacts iwthDNA directly: cell injury |
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what is the risk of HCC with Hemchrom cirrhosis compared with other cirrhosis?
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musch higher risk of HCC with hemchrom
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why is there male predominance of hemcrhom?
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menses
gender diff absorption |
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when do you evaluate pt for hemchrom?
what do you evealuate? |
wehn someone has abnormal iron, unknown liver disease, 1st degree fam
eveal: transferrin sat (iron boud/total iron binding capacity) Ferritin |
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what do you do for hemcrhom pts that cant give blood?
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IV deferoxamine: chelates iron to help excretion
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why should hemchrom pts avoid shellfish?
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vibrio vulnificus is more dangerous for them
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where is heme produced?
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85% in RBC
15% liver |
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what does heme do to ALA synthase?
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it is a neg reg at the rate limiting step of heme synthesis
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what causes AIP, a neurovisceral porphyria?
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induction of ALAsyn leading to accumulation of ALA
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what induces ALA syn?
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alcohol
meds fasting hormone fluc |
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Severe abdominal pain
red wine urine onset during puberty female increased urinary AL and rinary PBG |
AIP
stop ALAsyn inducing meds IV hemin: down regs ALAsyn |
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skin fragility
hyperpig on areas of sun slcelroderma, increas har, scaring uroporphyrin in urine |
PCT
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how does PCT cause skin damage?
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UV light: excites porphyrins: ROS: damae to cell membans: cell lysis of RBC, mast, fibroblasts in skin tissue
no fam history |
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what is the cause of wilson's disease?
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excess copper due to mutation of ATP7B gene
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what does copper do in the body?
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cross links elastin in CT, free rad scavenger, elcetorn transfer
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wht is ceruloplasmin?
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protein that binds copper
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what does ATP7B do?
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codes for transporter that helps Cu to ceruloplasmin or trnasfer into biliary system to be excredted through bile ducts
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what are the consequences of ATP7B mutation?
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copper cannot get into the biliary system; cannot be excreted
copper cant bind apoceruloplasmin to make ceruloplasmin (ceruloplasmin levelsdecreas) |
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hepatobilliary symptoms
parkinsons like symtoms copper deposit win basal ganglia on MRI AST/ALT >2 alkphos/bilirugin <4 |
Wilson's disease
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is serum total copper high or low in wilsons?
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low bc low ceruloplasmin
24 urin copper is elevatd |
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what are kayser fleicher rigns?
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copper deposits in cornea
found in wilson's disease |
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whats the Tx for wilson's?
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chelators of copper D penicililamine and trientine
Zinc (reduces GI absorption of copper) avoid copper foods screen family |
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if someone has emphysema and liver disease what do you check for?
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A1ATdef
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what is the bimodal distribution of A1ATdef?
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children: hepatitis and cirrhosis
older: emphysema (30-40% have liver disease) |
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what is the mech for damage in A1AT def?
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makes A1AT, but stays in ER in hepatocytes: buildup of PI causes liver damage
A1AT cant get ito lund to coutneract elastase: emphysema |
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eval and Tx for A1AT?
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eval: check plasma A1AT, check SERPINA for Z alleles (bad)
Tx: A1AT replacement for lung transplant for end stage liver: new liver new genotype |
