Dubin-johnson Syndrome

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What is Dubin-johnson Syndrome ?  

Autosomal recessive disorder. The condition causes an increase of conjugated bilirubin in the serum without elevation of liver enzymes. There is a difficulty in the ability of hepatocytes to secrete conjugated bilirubin into the bile.

Cause(s) :  Autosomal recessive gene disorder due to loss of function mutation Symptoms and signs: Usually asymptomatic, but may be diagnosed with tests in infancy.

Diagnosis and Tests :  
  • Liver tests
  • Darkly pigmented liver (due to polymerized epinephrine metabolites)
  • Blood test
  • Urine tests for porphyrins
  • Autopsy of liver (reveals dark pink or black appearance due to pigment accumulation)
Specialist to consult :  Pediatrics

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