Dubin Johnson syndrome is an autosomal recessive condition which results in a conjugated hyperbilinaemia.
It is caused by a mutation in the CMOAT gene resulting in the absence of a functional multidrug resistance protein 2 from the hepatocyte canalicular membrane.
Presentation
- Jaundice
- Abdominal pain
- Dark urine
Other features of Dubin Johnson syndrome
- Increased urinary excretion of coproporphyrin isomer I - more isomer I excreted than isomer III (in normal patients, more isomer III is excreted)
- Black pigmentation of liver
- Prolonged retention of sulfobromophthalein
It is benign and no specific treatment is required.
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