Genetics of GI Disorders

Question 1

Which of the following is an autosomal recessive disorder where UGT1A1 is completely absent, and patients often present with decrease muscle tone and possible Kernicterus?

A. Type I Crigler Najjar

B. Type II Crigler Najjar

C. Gilbert’s Syndrome

D. Dubin-Johnson’s syndrome

E. Rotor’s Syndrome

Answer 1

Type I Crigler Najjar

Question 2

Which of the following is an autosomal recessive disorder where there’s a defect in the UGT1A1 promoter, that causes increase in unconjugated bilirubin? Note: symptoms usually only appear in teens/adulthood during times of stress

A. Type I Crigler Najjar

B. Type II Crigler Najjar

C. Gilbert’s Syndrome

D. Dubin-Johnson’s syndrome

E. Rotor’s Syndrome

Answer 2

Gilbert’s Syndrome

Question 3

Which of the following is caused by a defect in MRP2 that leads to an increase in conjugated bilirubin and epinephrine, that turns the liver black?

A. Type I Crigler Najjar

B. Type II Crigler Najjar

C. Gilbert’s Syndrome

D. Dubin-Johnson’s syndrome

E. Rotor’s Syndrome

Answer 3

Dubin-Johnson’s syndrome

Question 4

What is the defective component in patients with Rotor’s Syndrome?

A. MRP2 gene

B. UGT1A1 promotor

C. UGT1A1 gene

D. OATP1B1 or OATP1B3

Answer 4

OATP1B1 or OATP1B3

NOTE: Similar to Dubin Johnson. symptoms, but you won’t see a black liver, and you WILL see elevated coproporphyrin levels in urine

Question 5

Mutation in which of the following leads to decreased ability of Cu to bind ceruloplasmin, and copper being deposited everywhere especially cornea, liver, brain, and joints

A. MRP2 gene

B. UGT1A1 promotor

C. UGT1A1 gene

D. OATP1B1 or OATP1B3

E. ATP7B

Answer 5

ATP7B

Question 6

A patient presents with mental changes, Kaysier flescher rings, and increased copper in the urine. What is the genetic disorder?

A. Crigler Najjar

B. Prader Willi

C. Wilson’s Disease

D. Hepatits

Answer 6

Wilson’s Disease

NOTE: THere is an increased risk of Hepatits and Hepatocellular Carcinoma with Wilson’s Disease

Question 7

Here are the labs for Wilson’s Diseaes

Answer 7

Cool

Question 8

Which of the following symptoms of Wilson’s disease indicates copper deposits in subthalamic nucleus?

A. Parkinsons-like symptoms

B. Hemiballisums

C. Dementia

Answer 8

A. Parkinsons-like symptoms -putamen

B. Hemiballisums

C. Dementia- cerebral cortex