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home - Liver - Bilirubin Metabolism - Dubin Johnson and Rotor Syndrome Written by Dr Sebastian Zeki

Dubin Johnson and Rotor Syndrome

The diagnosis and differentiation from Dubin-Johnson sy-dromeIn Dubin-Johnson syndrome, plasma BSP clearance shows a characteristic biphasic peak (45 and 90 minutes).In Rotor syndrome, there is increased retention of BSP at 45 minutes and no secondary peak is seen. Clotting factor VII deficiency —Dec PT due to dec. clotting factor VII, in 60 % -most common Sephardic Jews. Bilirubinuria Epinephrine metabolites Epinephrine metabolites Epinephrine metabolites Histological Features:Grossly, the liver is black.Dense pigment can be seen in lysosomes (epinephrine metabolites)CT- shows significantly high attenu-tion of the liver. Urinary coproporphyrin excretion Total excretion is normal but t >80 % of it is coproporphyrin I ( in normals, 75 % is coproporphyrin III) In patients with Rotor syndrome, total urinary coproporphyrins are increased to 250 to 500 % of normal with approxi-mately 65 % being coproporphyrin I.Heterozygotes have intermediate levels Normal histology Autosomal recessive Clinical features:The patents may have mild icterus or be asymptomatic.Icterus can be so mild as to be noted only during inter-current illnesses, pregnancy, or OCP’s.Patients do not have pruritus.Hepatosplenomegaly occasional. Molecular mechanism of Dubin-Johnson Syndrome Non-bile acid organic anions, such as conjugated bilirubin and other glucuronide or glutathione conjugated substances, are transported into the bile canaliculus from the hepatocyte by the multid-rug resistance related protein (MRP-2) (also known as the canalicular multispecific organic anion tran-porter, cMOAT).The organic anion transporter, cMOAT is ATP dependent.MRP-2 is one of the ATP-binding cassette (ABC) transporters on chromosome 10q23-q24.Dubin-Johnson has an AR inheritance. 50% Conjugated Dubin-Johnson and Rotor Syndrome Dubin-Johnson Syndrome Rotor Syndrome Dubin Johnson Syndrome Epidemiol-ogyMales and females have an equal prevalence.The incidence in Sephardic Jews is 1:3000. Laboratory tests for D-J SyndromeOral cholecystography cant visualise biliary system.It can be seen 4-5 hours post iv Iodipamide. Diagnosis Features:Conjugated hyperbilirubinemia (50 % of the total bilirubin is direct); the rest of LFT’s are normal.Patients have a characteristic urinary coproporphyrin excretion. Treatment of D-R SyndromeNo treatment is required. Clinical features:Chronic isolated conjugated and unconjugated hyperbiliru-binemia without haemolysis.It is due to a defective hepatic storage of conjugated bilirubin.It is a benign condition. Laboratory tests —These patients have a prolonged retention of iv injected unconju-gated bilirubin and ICG.There is a 50 % reduction in transport maximum of BSP ( vs. no biliary transport in Dubin-Johnson).The gall bladder is usually visualized by oral cholecystography.Liver histology is normal. Treatment of Rotor SyndromeNo treatment is needed. Written by Dr Sebastian Zeki

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