Williams: Liver function

Question 1

what to also check for if patient has ADHD

Answer 1

Wilson disease

Question 2

liver labs to understand function of liver

Answer 2

albumin
PT/INR

Question 3

hepatocellular damage

Answer 3

AST/ALT elevation

Question 4

biliary tract damage

Answer 4

Alk Phos and GGT

Question 5

how to tease out liver or bone problem when Alk Phos is elevated

Answer 5

GGT lab

Question 6

how to evaluate jaundice

Answer 6

get total bilirubin and fractionate it

Question 7

bilirubin metabolism steps:

Answer 7

-old RBCs has hemeprotein and gives to liver macrophage
-heme protein broken down to biliverdin by hemeoxygenase
-biliverdin to bilirubin (unconjugated) by biliverdin reductase
-unconjugated bilirubin travels attached to albumin to the liver
-bilirubin + glucuronic acid (and UGT1A1)= conjugated
-leaves through MRP2 and fine until runs into bacteria and turned into urobilinogen and excreted

Question 8

of what?

Answer 8

liver disease

Question 9

mostly indirect bilirubin
failure of conjugation

Answer 9

Crigler Najjar

Question 10

mostly indirect bilirubin
increased load

Answer 10

hemolytic disease

Question 11

mostly direct bilirubin in the serum mechanism

Answer 11

cant evacuate hepatocyte/hepatocyte damage
blockage of bile ducts inside or outside liver

Question 12

Having a ____ that measures above normal size does not automatically equal pathology

Answer 12

liver

Question 13

H and E

Answer 13

cholestasis

Question 14

-Crucial to digest and absorb lipids
-Synthesis and maintain balance with cholesterol
-GI antimicrobial defense
-Prevent formation of Ca2+ gallstones

Answer 14

bile acids

Question 15

concentrated black bear derived bile acids that help break down gallstones

Answer 15

URSODIOL

Question 16

primary carbohydrate storage in the body

Answer 16

glycogen (liver, muscle)

Question 17

releases glucose to maintain normal blood glucose levels

Answer 17

glycogen

Question 18

glucose-6-phosphatase deficiency

Answer 18

Type I GSD (Von Gierke)

Question 19

hypoglycemia
hepatomegaly
Doll Face

Answer 19

Type I GSD (Von Gierke)

Question 20

decifiency in glycogen debranching enzyme
hepatomegaly

Answer 20

Type III GSD (Forbes-Cori)

Question 21

deficiency in glycogen branching enzyme
cirrhosis

Answer 21

Type IV GSD (Anderson’s)

Question 22

mutation in SERPINA1 gene

Answer 22

alpha-1-antitrypsin deficiency

Question 23

phenotype of A1AT deficiency most commonly associated with liver disease

Answer 23

PI*ZZ

Question 24

main way to diagnose alpha-1-antitrypsin deficiency

Answer 24

A1AT phenotype

Question 25

hepatocytes stained with PAS concentrated in what zone for Alpha-1-antitrypsin deficiency

Answer 25

zone 1 (periportal)

Question 26

no____exposure for patients with alpha-1-antitrypsin deficiency

Answer 26

smoke

Question 27

copper overload in liver and other organs

Answer 27

Wilson's Disease

Question 28

mutated _____ seen in Wilson's disease

Answer 28

ATP7b

Question 29

Kayser-Fleischer rings

Answer 29

Wilson's disease

Question 30

____ are seen in 90% of patients with neuro and psychiatric involvement with wilson's disease

Answer 30

K-F rings

Question 31

diagnose this with: slit lamp exam ceruloplasmin urine Cu2+

Answer 31

Wilson's disease

Question 32

to Rx Wilson's disease

Answer 32

TRIENTINE (copper chelator)

Question 33

excessive storage of iron

Answer 33

hereditary hemochromatosis

Question 34

mutation in HFE gene

Answer 34

hereditary hemochromatosis

Question 35

to Rx hereditary hemochromatosis

Answer 35

phlebotomy