Heritable Disorders Associated with Cirrhosis

Question 1

What is Wilson Disease?

Answer 1

Hepatolenticular Degeneration - rare disorder of copper metabolism

Question 2

Mutation found in WIlson disease?

Answer 2

ATP7B mutation

Question 3

Mechanism of pathology in Wilson Disease?

Answer 3

Impairment of copper transport and both biliary excretion and incorporation into cerulopasmin are deficient

Question 4

Major pathology of Wilson Disease?

Answer 4

Progression from mild to severe chronic hepatitis

Question 5

Ocular manifestations of Wilson Disease?

Answer 5

• Kayser-Fleischer rings
• “Sunflower cataracts”

Question 6

What can cystic fibrosis lead to?

Answer 6

Biliary cirrhosis and obstruction

Question 7

What can alpha1 antitrypsin deficiency lead to?

Answer 7

Cirrhosis and lung disease

Question 8

What is the job of alpha1 antitrypisn?

Answer 8

To deactivate neutrophil elastase

Question 9

What disease can occur in neonates with alpha1 antitrypsin deficiency?

Answer 9

Neonatal cholestatic jaundice

Question 10

What is a high incidence complicaiton of A1AT deficiency?

Answer 10

Hepatoceullar carcinoma

Question 11

What glycogen storage disease is complicated by cirrhosis?

Answer 11

Glycogenosis type IV disease (Brancher deficiency, Andersen disease)

Question 12

What is galactosemia?

Answer 12

Galactose-1-phosphate uridyl transferase deficiency; Galactose cannot be converted to glucose and therefore accumulates in viscera

Question 13

What is hereditary fructose intolerance?

Answer 13

Deficiency of fructose-1-phosphate aldolase

Question 14

What is tyrosinemia?

Answer 14

Conversion of tyrosine to fumarate and acetoacetate is impaired due to fumarlyacetoacetate hydrolase

Question 15

Complication of tyrosinemia?

Answer 15

Extraordinarily high incidence of hepatocellular carcinoma