Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features ++ 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 +++ Clinical Findings ++ 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 +++ Diagnosis ++ 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 +++ Treatment ++ No treatment is needed for either condition Choleretic agents (eg, UDCA) may help reduce the cholestasis in infants with Dubin-Johnson syndrome Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Download the Access App: iOS | Android Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.