Dubin-Johnson Syndrome
Joseph Misdraji, MD
Key Facts
Etiology/Pathogenesis
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Mutations in CMOAT/MRP2/ABCC2 gene causes impaired biliary transport of conjugated bilirubin
Clinical Issues
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Chronic or intermittent jaundice
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Isolated conjugated hyperbilirubinemia
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Onset usually at puberty or in teenage years
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Neonates can present as cholestasis and hepatomegaly
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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Pigment highlighted by periodic acid-Schiff stain with diastase digestion and by Fontana-Masson stain
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 salt-independent bile flow
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Mutations of the ATP-binding cassette (ABC) domains may be associated with earlier onset of disease
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