Dubin-Johnson Syndrome, Diagnosis
Dubin-Johnson Syndrome
Sample for Dubin-Johnson Syndrome
- Blood is needed to get the serum.
- A random sample can be taken.
Definition of Dubin-johnson syndrome
- Dubin-Johnson syndrome (DJ) is a benign condition and looks like mild viral hepatitis.
- It is characterized by mild recurrent jaundice with hepatomegaly.
Pathophysiology of Dubin-johnson syndrome
- This is a rare genetic autosomal recessive disorder (chromosome 10q24).
- This is due to the inability to transport bilirubin-diglucuronide through the parenchymal hepatic cells into bile canaliculi.
- This is a defect in the canalicular multispecific organic anion transport associated with increased plasma-conjugated bilirubin.
- There is mild jaundice with a total bilirubin of 2 to 5 mg/dL.
- The liver has intense dark pigmentation due to the accumulation of lipofuscin pigment.
- While the conjugation of bilirubin is regular.
Signs and symptoms of Dubin-Johnson Syndrome
- There is a yellowness of the eyes and skin due to hyperbilirubinemia.
- Mild jaundice, which may not appear until puberty or adulthood, is the only symptom of Dubin-Johnson syndrome.
- The jaundice is nonpruritic.
- Mostly the patients are asymptomatic.
Risk factors that increase jaundice:
- Infection.
- Pregnancy.
- Birth control pills.
- Use of alcohol.
- Environmental factors which may affect the liver.
Diagnosis of Dubin-Johnson Syndrome
- Serum bilirubin is raised (maybe 3 to 10 mg/ 100 ml). Approximately 50% is indirect bilirubin.
- Serum SGOT and SGPT (ALT, AST) are normal.
- Urine contains bile and urobilinogen.
- A liver biopsy shows plenty of yellow pigments or black pigments in the hepatocytes and gives the liver a black appearance.
- Cholecystography shows the absence of the gallbladder.
Summary of Dubin-Johnson syndrome
Clinical features | Dubin-johnson syndrome features |
Incidence | Uncommon |
Inheritance method | Autosomal recessive (chromosome 10q24) |
Pathogenesis | There is impaired biliary excretion of conjugated bilirubin |
Clinical signs and symptoms |
|
Serum bilirubin |
|
Liver function tests | Normal except bilirubin |
Age at the onset of jaundice | Childhood and adolescence |
BSP test (Impaired excretion of the dye) |
|
Orla cholecystography | The gallbladder is usually not visualized |
Liver biopsy |
|
Prognosis | Usually not bad (Not shorten the life) |
Treatment | Not needed |
Treatment of Dubin-Johnson Syndrome
- This is a benign disease and does not need any specific treatment.
- This patient should be given a 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 is not now recommended.
The outcome of the disease
- The picture is not gloomy and does not shorten the patient’s lifespan.
Questions and answers:
Question 1: What is the mechanism of Dubin-Johnson Syndrome?
Question 2: What is the color of the liver in Dubin-Johnson Syndrome?
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