Updated: 6/10/2020

Dubin-Johnson / Rotor Syndrome

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Snapshot
  • A 22-year-old motorcycle accident victim with unknown past medical history is brought into the ED with severe head injuries. He is stabilized and brought to the surgical ICU where he is deemed to be brain dead by both the intensivist and neurosurgery staff. The organ transplant team is contacted and determine that he is an eligible kidney donor. However, he is not eligible for liver donation. Upon entering the abdomen during harvest, the team notices that his liver is black. 
Introduction
  • Hereditary conjugated hyperbilirubinemia 
    • ↓ hepatic excretion of conjugated bilirubin
    • autosomal recessive 
  • Two types
    • Dubin-Johnson syndrome (DJS) 
      • mutation of the canalicular multiple drug-resistance protein (MRP2) gene leads to impaired biliary excretion of bilirubin glucuronides 
      • grossly "black liver"
    • Rotor syndrome
      • associated with mutations of the SLCO1B1 and SLCO1B3 genes leading to defect in the hepatic storage of conjugated bilirubin 
      • does not cause black liver
Presentation
  • Symptoms
    • most patients are asymptomatic
  • Physical exam
    • may become jaundiced or icteric during pregnancy or with oral contraceptives
    • jaundice is non-pruritic 
Imaging
  • Dubin-Johnson syndrome 
    • gallbadder and biliary system cannot be visualized via oral cholecystography 
  • Rotor syndrome 
    • galllbadder can be visualized via oral cholecystogram 
Studies
  • Laboratory studies 
    • normal laboratory studies including hepatic function, alkaline phosphatase, and albumin 
    • elevated conjugated bilirubin levels with total serum bilirubin concentrations between 2-5 mg/dL
    • coproporphyrin III:coproporphyrin I ratio
      • elevated coproporphyrin I ration in DJS 
    • total urine coproporphyrin levels
      • elevated in Rotor syndrome
      • normal in DJS
  • Gross pathology 
    • dark black liver in DJS due to deposition of dense pigment 
Treatment
  • Benign condition 
  • No treatment required 

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(M1.GI.15.24) A 14-year-old boy who recently immigrated to the US is brought to the pediatrician by his mother because she has noticed a recent color change in his eyes as demonstrated in Figure A. She is concerned because he has never had significant medical care in his life. Otherwise the boy has no complaints and states that he feels fine. The pediatrician obtains labs which demonstrate: total bilirubin: 5 mg/dL, direct bilirubin 4.5 mg/dL, indirect bilirubin 0.5 mg/dL, AST: 15, ALT: 20, GGT: 10. A liver biopsy is subsequently obtained which is demonstrated in Figure B. Which of the following is the most likely diagnosis for this patient?

QID: 104815
FIGURES:
1

Dubin-Johnson syndrome

61%

(101/165)

2

Gilbert's syndrome

12%

(19/165)

3

Rotor syndrome

12%

(19/165)

4

Crigler–Najjar syndrome

11%

(18/165)

5

Hepatitis C

2%

(3/165)

M 2 C

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