Rubin's Liver (3)

Question 1

“AR inherited defect in ATP mediated hepatocyte copper transport”

Answer 1

Wilson disease

Question 2

What results from the defect in Wilson disease?

Answer 2

lack of Cu transport into bile and ack of Cu incorporation into ceruloplasmin

Question 3

Symptoms of Wilson disease?

Answer 3

cirrhosis, neuro manifestations, Keyer- flesher rings in cornea

Question 4

Does wilson disease increase the risk of liver cancer?

Answer 4

Yes

Question 5

How does CFTR mutation lead to cirrhosis?

Answer 5

biliary obstruction–> biliary cirrhosis

Question 6

“AR defect in serine protease inhibitor leading to hepatocytes with PAS droplets”

Answer 6

Alpha-1- antitrypsin deficiency

Question 7

Most common genetic cause of liver disease?

Answer 7

Alpha-1- antitrypsin deficiency

Question 8

Does Alpha-1- antitrypsin deficiency increase risk of cancer?

Answer 8

Yes!

Question 9

“hepatocytes distended with glycogen, no fibrosis, hepatic adenomas in adolescence”

Answer 9

Type I glycogen storage disease

Question 10

“inherited glycogen storage disease with mild hepatomegaly:

Answer 10

Type II, Pompe

Question 11

“inherited glycogen storgage disease with severe hepatomegaly, and fibrosis that can progress to cirrhosis”

Answer 11

Type III, cori

Question 12

“branching enzyme dificiecny that is associated by cirrhosis at a young age”

Answer 12

Type IV, Andersen

Question 13

Which glycogen storage disease responds to dietary control?

Answer 13

Type I

Question 14

“infants can not process milk, AR mutation, cataracts, jaundince, hepatosplenomegaly, cirrhosis”

Answer 14

Galactosemia

Question 15

“AR deficiency of Fructose 1 phosphate aldolase leading to hepatomegaly, jaundice, and cirrhosis”

Answer 15

Hereditary fructose intolerance

Question 16

“loss of FAH leadig to accumulation of succinyl acdetone and succinyl acetoacetate”

Answer 16

Tyrosinemia

Question 17

“fatal disorder, micronodular cirrhosis and abundant mallory bodies in indian boys”

Answer 17

Indian childhood cirrhosis

Question 18

Histologic pattern of acetomenophen liver disease?

Answer 18

Zonal hepatocellular necrosis

centrilobular

Question 19

Which drugs cause cholestasis?

Answer 19

estrogens and antibiotics`

Question 20

“cholestasis + inflammation”

Answer 20

cholestatic hepatitis

Question 21

Which drugs case macrovesicular steatosis?

Answer 21

CCL4, corticosteroids, methotexate and amiodarone

Question 22

“microvascular steatosis + hepatic failure + encephalopathy”

Answer 22

Reye syndrome

Question 23

What causes Reye syndrome?

Answer 23

aspirin in the setting of influenza and varicella infectoin

Question 24

What drugs can cause Budd Chiari?

Answer 24

oral contraceptives

Question 25

Which drugs cause hepatic adenomas?

Answer 25

estrogen and anabolic steroid use

Question 26

What exposure can lead to hepatic angiosarcomas?

Answer 26

IV thorium dioxide dye

Question 27

"photosensitivity and hepatic iron overload in middle aged to elderly patients"

Answer 27

Porphyria cutanea Tarda

Question 28

"nutmeg liver"

Answer 28

due to chronic passive congestion of the heart from CHF

Question 29

"liver diffusely speckled with dilated and congested sinusoids and terminal venules"

Answer 29

Acute passive congesion from CHF

Question 30

"donovan bodies"

Answer 30

Parasitic organisms in the Kupffer cells Visceral leishmaniasis

Question 31

"leptospirosis + prolonged fever + jaundice"

Answer 31

Weill syndrome

Question 32

Most common cause of neonatal hepatitis?

Answer 32

alpha 1 anti-trypsin deficiency

Question 33

"AD syndrome cauing bile duct atresia from notch pathway mutations"

Answer 33

Algille syndrome

Question 34

2 risk factors for hepatic adenomas?

Answer 34

oral contraceptives anabolic steroid use

Question 35

Major complication of hepatic adenomas?

Answer 35

bleeding into the peritoneal cavity

Question 36

Most common benign tumor o f the liver?

Answer 36

hemangiomas

Question 37

"multiple small cystic bile ducts on fibrous stroma"

Answer 37

Bile duct microhamartomas (Von meyenburg complexes)

Question 38

"liver cysts lined by epithelium associated with PKD"

Answer 38

solitary or multiple simple cysts

Question 39

"malignant tumor of hepatocytes"

Answer 39

hepatocellular carcinoma

Question 40

"abd pain + enlarged liver + ascites"

Answer 40

Budd chiari (hepatic vein occlusion) Increased risk with hepatocelluar carcinoma

Question 41

"tumor arising from biliary epithelium anywhere along the biliary tree"

Answer 41

Cholangiosarcoma

Question 42

"rare malignant liver tumor of children"

Answer 42

hepatoblastoma