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.
Dubin Johnson syndrome pathogenesis
- 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.
Dubin-Johnson syndrome pathogenesis
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?
hello,
Im vinoth kambli,
doctor was confirmed for me . i have a dubin johnson syndrome.
problems a matter is im not able to clear medical test for foreighn jobs in any country.
so,please reply….any solutions?
Please read my article.
Hello,
I am Muha,
I have liver function test. I have elevated direct bilirubin (5.9 umol/l) and ALP (311 U/l). All other parameters (ALT, AST, GGT, TP, Albumin and total bilirubin) are normal. Abdominal (liver) ultrasound reveals no abnormalities. I have mild intermittent colic. I am not sure what is going on. My doctor said nothing to worry about. I appreciate if you could help me. Thank you
Have you checked the viral profile (HBV, HCV)? If there is only raised direct bilirubin, then the possibilities are hereditary hyperbilirubinemia. Mostly these are benign conditions. You can try the tab. Phenobarbitone or consult a physician about this drug. It will lower the bilirubin level.
Thank you for your reply. Yes, I have checked for HCV in 2017 and it was negative. I have experienced an elevated ALP since I was 11 (16-year-old now). What is the tab?