Dubin-Johnson Syndrome

Grossly Evident PigmentGross photograph of liver core biopsies embedded in the paraffin block show dark regions image corresponding to the pigment within centrizonal hepatocytes.

image
Cytoplasmic PigmentH&E section shows coarse granular pigment deposition in centrizonal hepatocytes.
image
PAS Stain With Diastase StainPAS stain with diastase digestion accentuates the coarse pigment granules in the cytoplasm of centrizonal hepatocytes.
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Fontana-Masson StainFontana-Masson stain highlights the coarse pigment within centrizonal hepatocytes.

TERMINOLOGY

Definitions

• Defect in hepatocellular secretion of conjugated bilirubin

ETIOLOGY/PATHOGENESIS

Genetic Disorder

• Autosomal recessive
• Mutations in ABCC2 ( CMOAT / MRP2) gene, which codes for ATP-dependent organic anion transport localized to canalicular membrane
image Results in impaired biliary canalicular transport of organic anions including conjugated bilirubin
image Impaired glutathione excretion reduces bile salt-independent bile flow

CLINICAL ISSUES

Epidemiology

• Incidence
image Rare
• Age
image Develop jaundice in teenage years
• Sex
image M = F
• Ethnicity
image Prevalence highest among Moroccan and Iranian Jews (1:1,300)

Presentation

• Most patients asymptomatic
• Can present as chronic or intermittent jaundice or with mild right upper quadrant abdominal pain

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Apr 20, 2017 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Dubin-Johnson Syndrome

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