Dubin-Johnson Syndrome
Joseph Misdraji, MD
Key Facts
Etiology/Pathogenesis
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Mutations in cMOAT/MRP2 gene causes impaired biliary transport of conjugated bilirubin
Clinical Issues
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Chronic or intermittent jaundice, precipitated by pregnancy or oral contraceptives
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Isolated conjugated hyperbilirubinemia
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Shift in urine coproporphyrin isomers from isomer III to isomer I
Macroscopic Features
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Grossly pigmented liver
Microscopic Pathology
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Coarse granular pigment in centrilobular hepatocytes
Ancillary Tests
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Periodic acid-Schiff with diastase digestion and Fontana-Masson stains highlight pigment
Gross photograph of liver core biopsies embedded in the paraffin block show dark regions  corresponding to the pigment within centrilobular hepatocytes. |
Hematoxylin & eosin section shows coarse granular pigment deposition in centrilobular hepatocytes. |
TERMINOLOGY
Definitions
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Defect in hepatocellular secretion of conjugated bilirubin
ETIOLOGY/PATHOGENESIS
Genetic Disorder
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Autosomal recessive
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Mutations in cMOAT/MRP2/ABCC2 gene, which codes for ATP-dependent organic anion transport localized to canalicular membrane
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Results in impaired biliary canalicular transport of organic anions including conjugated bilirubin
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Impaired glutathione excretion reduces bile saltindependent bile flow
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CLINICAL ISSUES
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