liver as metab organ

Question 1

HFE Cys282Tyr

Answer 1

hereditary hemochromatosis responsible for pathology

Question 2

H63Asp

Answer 2

Hereditary Hemochromatosis benign

Question 3

clinical ageof hemo

Answer 3

40, white male

Question 4

Hereditary hemochromotatosis at risk for

Answer 4

Liver cancer

Question 5

Sickle cell disease will present ith iron in the

Answer 5

Kuppfer cells

Question 6

tx hemochromotsis

Answer 6

screen family members

phlebotomy ~/3months

Question 7

alpha1-AT ZZ

Answer 7

alpha 1 antitrypsin disease

Question 8

what is defective in A1ATD

Answer 8

protein folding, elastase

Question 9

PiMM

Answer 9

normal levels of alpha 1 antitrypsin

Question 10

PiZZ

Answer 10

disease A1AT, risk of HCC

Question 11

tx of A1AT

Answer 11

liver transplantation, avoid cigarettes

Question 12

low serum alpha 1 AT allows neutrophils to do what?

Answer 12

neutrophil elastase can destroy lung matrix proteins following inflammation in the lung

Question 13

lab values:
low ceruloplasmin
Kayser-Fleishrer Ring

Answer 13

Wilson disease

Question 14

ATP7B

Answer 14

Wilson disease, mutation of the ATPase that transports copper

Question 15

average age of presentation wilson disease

Answer 15

10-13 years

Question 16

Coomb’s negative hemolytic anemia assoc with

Answer 16

Wilson disease

Question 17

Copper accumulates where causing neuro deficits?

Answer 17

basal ganglia

Question 18

DXic test for Wilson

Answer 18

Urinary Copper

Question 19

tx wilson

Answer 19

d-penicillamine or trientine hydrochloride

zinc acetate

Question 20

vitamin supplementation for wilson and diet suggestion

Answer 20

B6 supplementation

avoid low copper diet: mushrooms, nuts, chocolate, dried fruit, liver, shellfish

Question 21

Liver histology of wilson

Answer 21

steatosis

signs of apoptosis

Question 22

N-Acetylecysteine use for tx of

Answer 22

Acetominophen od

Question 23

toxic metabolite

Answer 23

NAPQI

Question 24

what intermediate is responsible for reducing NAPQI to carry to the kidneys for excretion

Answer 24

Glutathione

Question 25

CHRONIC Alcohol use or drugs increase which CYP?

Answer 25

CYP2E1

Question 26

What drugs potentiate CYP450 and result in an increase prodn of NAPQI

Answer 26

Chronic alcohol consumption

Anticonvulsants

Anti-TB meds

Dexamethasone

St. John’s Wort

Question 27

Anticonvulsants that potentiate CYP450

Answer 27

Tegretol

Dilantin

Phenobarb

Question 28

Anti-TB CYP450 potentiators

Answer 28

Rifampin

INH

Question 29

Impaired glucuronidation seen in _________ syndrome enhances acetominophen toxicity

Answer 29

Gilbert’s

Question 30

acetominophen OD timeline

Answer 30

2-12 hours: nausea, vomiting, diaphoresis, pallor, lethargy

24-48 hours: temp symptom improvement
Prolonged PTT, increased AST/ALT, RUQ pain, hepatomegaly

72-96 hours: severe hepatic damage

4-14 days clinical recovery

Question 31

Centrilobular necrosis=

Answer 31

aceetimoniphen OD bc high concentration of

Question 32

hepatic enzymes that distinguish acetominophen toxicity from EtOH

Answer 32

> 5000 IU/L

EtOH rarely over >500