Dubin-Johnson Syndrome, Diagnosis
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:
- 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|
|Inheritance method||Autosomal recessive (chromosome 10q24)|
|Pathogenesis||There is impaired biliary excretion of conjugated bilirubin|
|Clinical signs and symptoms||
|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|
|Prognosis||Usually not bad (Not shorten the life)|
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?
Conjugated bilirubin can not be transported into the biliary system.
Question 2: What is the color of the liver in Dubin-Johnson Syndrome?
It is black and not visualized on cholecystography.