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Key Features

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  • These diagnoses are suspected when persistent or recurrent conjugated hyperbilirubinemia and jaundice occur and liver function tests are normal

  • Dubin-Johnson syndrome

    • Defect is in the multiple organic anion transport protein 2 (MRP2) of the bile canaliculus, causing impaired hepatocyte excretion of conjugated bilirubin into bile

    • A variable degree of impairment in uptake and conjugation complicates the clinical picture

    • Transmission is autosomal recessive, so a positive family history is occasionally obtained

  • Rotor syndrome

    • Defect lies in hepatic uptake and storage of bilirubin

    • OATP1B1 (coded by SLCO1B1) and OATP1B3 (SLCO1B3) are the two transporters that are deficient

    • Bile acids are metabolized normally, so that cholestasis does not occur

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Clinical Findings

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  • Dubin-Johnson syndrome

    • Liver is darkly pigmented on gross inspection and may be enlarged

  • Rotor syndrome

    • Liver is normal

    • Bilirubin values range from 2 mg/dL to 5 mg/dL

    • Other liver function tests are normal

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Diagnosis

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  • Microscopic examination

    • Reveals numerous dark-brown pigment granules consisting of polymers of epinephrine metabolites, especially in the centrilobular regions

    • However, the amount of pigment varies within families, and some jaundiced family members may have no demonstrable pigmentation in the liver

    • Otherwise, the liver is histologically normal

  • Oral cholecystography

    • Fails to visualize the gallbladder in Dubin-Johnson syndrome

    • Normal in Rotor syndrome

  • The following differences can help distinguish between these two conditions

    • Excretion patterns of bromosulfophthalein

    • Results of HIDA cholescintigraphy

    • Urinary coproporphyrin I and III levels

    • Serum pattern of monoglucuronide and diglucuronide conjugates of bilirubin

  • Clinical genotyping of MRP2, SLCO1B1, and SLCO1B3 is available

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Treatment

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  • No treatment is needed for either condition

  • Choleretic agents (eg, UDCA) may help reduce the cholestasis in infants with Dubin-Johnson syndrome

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