Bilirubin Stuff

Question 1

2 Familial Unconjugated Hyperbilirubinemias

Answer 1

Crigler-Najjar (T1 and 2)

Gilbert’s

Question 2

2 Familial Conj HyperBR

Answer 2

Dubin-Johnson Syndrome

Rotor’s Syndrome

Question 3

Crigler-Najjar T1

Answer 3

Rare, recessive near total loss of UGT1A1 so no BR conjugation. Liver transplant needed

Question 4

Crigler-Najjar T2

Answer 4

UGT1A1 maintained but at minimul level. Use phenobarbital to reduce BR levels below 16 mg/dL to prevent neuro injury

Question 5

Gilbert’s Syndrome

Answer 5

In promoter of UGT1A1 gene, mostly asymptomatic (maybe some nonspecific of sensitivities to meds)

Question 6

Dubin-Johnson Syndrome

Answer 6

MRP2 mut, pretty much entirely asymptomatic but possible icterus on stressors (maybe hepatosplenomegaly too, and black liver)

Question 7

Rotor’s Syndrome

Answer 7

Pretty much Dubin-Johnson without hepatosplenomegaly or black granular liver and gallbladder visualized on oral cholecystography

Question 8

Distinguishing Cholestasis of Pregnancy from Rotor’s/DJ

Answer 8

CoP has pruritis

Question 9

2 Familial Cholestasis Syndromes (& what they require)

Answer 9

Progressive Familial Intrahepatic Cholestasis (PFIC) - needs ADEK sup and liver transplant maybe at end stage
Benign Recurrent Intrahepatic Cholestasis (BRIC) - Don’t really need anything