Dubin-Johnson syndrome is an autosomal recessive condition characterized by jaundice. Total bilirubin levels usually range between 2 and 5 mg/dL, with increased plasma conjugated bilirubin.
A dark pigment accumulates in the liver, giving it a characteristic black color.
Primary defect is a mutation in an apical canalicular membrane protein responsible for excretion of bilirubin.
Jaundice is worsened by an intercurrent illness, pregnancy, and oral contraceptives.
A unique pattern of urinary excretion of coproporphyrins (by-products of heme synthesis) aids in the diagnosis.
It is a benign condition with a normal life expectancy and no specific treatment is required.
History and exam
Key diagnostic factors
- intermittent jaundice
- lack of pruritus
Other diagnostic factors
- illness, infection, or stress
- pregnancy-triggered jaundice
- medication-triggered jaundice
- abdominal pain
- family history
- age 10 to 30 years
- Iranian Jewish or Moroccan Jewish ethnicity
- male sex
1st investigations to order
- serum bilirubin
- serum alkaline phosphatase
- serum liver aminotransferases (aspartate aminotransferase and alanine aminotransferase)
- serum albumin
- serum gamma-glutamyl transferase
- serum bile acids
- clotting profile
Investigations to consider
- urinary coproporphyrin I to III ratio
- 99mTc hepatobiliary imino-diacetic acid (HIDA) scan (cholescintigraphy)
- liver biopsy
- mutational analysis of the ABCC2 gene
- urinary leukotriene metabolites
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