Dubin-Johnson Syndrome, Diagnosis

Dubin-Johnson Syndrome

Sample

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

Definition of Dubin-johnson syndrome

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

Pathophysiology of Dubin-johnson syndrome

1. This is a rare genetic autosomal recessive disorder (chromosome 10q24).
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.
   

   Dubin Johnson syndrome pathogenesis

4. There is mild jaundice with total bilirubin 2 to 5 mg/dL.
5. The liver has intense dark pigmentation due to the accumulation of lipofuscin pigment.
6. While the conjugation of bilirubin is normal.
   

   Dubin-Johnson syndrome pathogenesis

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, is the only symptom of Dubin-Johnson syndrome.
3. The jaundice is nonpruritic.
4. Mostly the patients are asymptomatic.

Risk factors that 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 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	Asymptomatic jaundice in young adults Mild chronic, recurrent jaundice May have right upper quadrant pain May have hepatomegaly Compensated except for periods of stress jaundice may be due to estrogens, birth control tablets, and the last  trimester of pregnancy
Serum bilirubin	Total = 2 to 7 mg/dL (1.5 to 6.0 mg/dL) and rarely <25 mg/dL Direct = ∼60%
Liver function tests	Normal except bilirubin
Age at the onset of jaundice	Childhood, and adolescence
BSP test (Impaired excretion of the dye)	It is delayed There is an initial rapid fall, then a rise in 45 minutes (normal) increased at 90 and 120 minutes, is characteristic
Orla cholecystography	The gall bladder is usually not visualized
Liver biopsy	There are characteristic pigments, yellow-brown or slate-black pigments (black liver) Pigments are present in the centrilobular area  and a small amount in kupffer cells
Prognosis	Usually not bad (Not shorten the life)
Treatment	Not needed

Treatment

• 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 not now recommended.

The outcome of the disease

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

 

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