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Dubin-Johnson Syndrome Diagnosis

Dubin-Johnson Syndrome Diagnosis
September 17, 2020Chemical pathologyLab Tests

Sample

  1. Blood needed to get the serum.
  2. A random sample can be taken.

Definition

  • Dubin-Johnson syndrome (DJ) is benign, looks like mild viral hepatitis.
  • It is characterized by mild recurrent jaundice with hepatomegaly.

Pathophysiology

  1. This is a rare genetic autosomal recessive disorder.
  2. This is due to the inability to transport bilirubin-diglucuronide through the parenchymal hepatic cells into bile canaliculi.
  3. This is a defect in the canalicular multispecific organic anion transport associated with increased plasma conjugated bilirubin.
Obstruction of bile canaliculi

Obstruction of bile canaliculi

  1. There is mild jaundice with total bilirubin 2 to 5 mg/dL.
  2. The liver has intense dark pigmentation due to the accumulation of lipofuscin pigment.
  3. While the conjugation of bilirubin is normal.
Dubon-johnson syndrome mechanism

Dubon-johnson syndrome mechanism

Sign and symptom

  1. There is a yellowness of eyes and skin due to hyperbilirubinemia.
  2. Mild jaundice, which may not appear until puberty or adulthood, this is the only symptom of Dubin-Johnson syndrome.
  3. The jaundice is nonpruritic.
  4. Mostly the patients are asymptomatic.

Risk factors which increase jaundice:

  1. Infection.
  2. Pregnancy.
  3. Birth control pills.
  4. Use of alcohol.
  5. Environmental factors which may affect the liver.

Diagnosis

  1. Serum bilirubin is raised (maybe 3 to 10 mg/ 100 ml). Approximately 50% is indirect bilirubin.
  2. Serum SGOT and SGPT (ALT, AST)  are normal.
  3. Urine contains bile and urobilinogen.
  4. Liver biopsy shows plenty of yellow pigments or black pigments in the hepatocytes and gives the liver a black appearance.
  5. Cholecystography shows the absence of gallbladder.

Treatment

  • This is a benign disease and does not need any specific treatment.
  • This patient should be given the warning for follow-up in case of pregnancy, oral contraceptives, and any illness which leads to an increase in the bilirubin level.
  • Phenobarbitone was used but not now recommended.

The outcome of the disease

The picture is not gloomy and it does not shorten the lifespan of the patient.

 


Possible References Used
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