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26 Cards in this Set
- Front
- Back
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3 pathways to pathogenesis as a result of a defective metabolic enzyme
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loss of product
accumulation of substrate alternate pathway (diversion of substrate into a different pathway producing toxic effects) |
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glactosemia
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autosomal recessive
mutation in Gal-1-P uridyl transferase mutation of Gal-1P is toxic to liver and kidney conversion of built up galactose to galactitol is toxic to lungs and causes cateracts |
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galactitol
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in galactosemia, build up of galactose gets converted to galacititol which is toxic to lung and causes cateracts
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Gal-1-phosphate
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builds up in galacosemia, toxic to liver and kidney
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galactosemia clinical
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vomiting, diarrhea, hypoglycemia, acidosis, failure to thrive, jaundice, hepatomegaly, cateracts, hemolysis, mental retardation, ecoli sepsis
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galactosemia diagnosis
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screen for negative urine glucose oxidase
confirm with direct measurement of gal-1 PUT enzyme activity |
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galactosemia treatment
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eliminate galactose/lactose in diet
dietary restriction in heterozygote mother during pregnancy calcium suppliment |
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tyrosinemia pathogenesis
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auto rec
defect in fumyrlacetoacetate hydrolase (FAH) accumulation of maleylacetoacetate and fumarylacetoacetate = combine to succinylacetone succinylacetone blocks conversion of delta-ALA (aminolevunic acid) to prophobilinogen damage to liver, kidney, brain |
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tyrosinemia clinical
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hepatic - liver damage, cholestasis, cirrhosis, hepatocellular carcinoma
renal - tubular dysfunction: rickets, + others neurological crisis - parethesis, hypertension, teachcardia, progressive weakness -> paralysis, death |
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tyrosinemia diagnosis
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suspect in patients with liver issues + rickets, coagulopathy, neurological crisis
increase urine and blood succinylacetone decreased FAH in blood plasma tyrosine level USELESS |
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tyrosinemia treatment
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dietary restruction of phenylalanine and trosine
NTBC liver transplant |
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hemochromatosis
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excessive accumulation of iron, which deposits everywhere
hereditary or acquired hereditary form due to HFE gene on chromosome 6 |
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hereditary hemochomatosis
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HFE gene mutation on chr 6
most common mutation is C282Y more common in males overexpression of divalent metal iron transporter (DMT) -> too much absorption of iron - slow accumulation |
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hemochromatosis clinical
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bronzing of skin
diabetes from pancreas damage liver cancer from liver damage |
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hemochromatosis diagnosis
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increased serum iron, ferritin, TIBC
liver biopsy - hepatic iron >5600ug/g |
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ferritin level and serum iron in hemochromatosis
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both ferritin and serum iron increased
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ferritin level and serum iron in acute infection
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ferrtin increased, serum iron low
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ferritin level and serum iron in anemia of chronic disease
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ferritin is normal, decreased serum iron
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ferritin level and serum iron in anemia
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ferritin decreased, serum iron decreased
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treatment of hemochromatosis
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phlebotomy
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wilson's disease pathogenesis
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auto rec
mutation in ATP7B on chr 13 unable to excrete copper into bile - accumulation of Cu unable to make ceruloplasmin with copper - decrease Cu build up damages liver, basal ganglia, cornea, kidney, other tissues |
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in the blood, copper is carried by
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albumin to the liver
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fate of copper in the body
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incorporated to alpha2 globulin to form ceruloplasmin
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wilson's disease clinical
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kaiser fleischer rings, neuropsych disorider, cadiomyopathy, hepatitis, cirrhosis, fanconi syndrome, HEMOLYTIC ANEMIA, osteopenia
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alpha1 anti-trypsin deficiency
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auto rec
chr14 deficiency of protease inhibitor lung disease caused by inhibited action of proteinases liver disease caused by intracellular accumulation of defective alpha1AT increased risk of hepatocellular carcinoma |
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alpha1 antitrypsin deficiency diagnosis
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increased LFT
increased GGT A1AT level liver biopsy - giant cell hepatitis, cirrhosis, red hyaline globule on stain |
