Dubin-Johnson Syndrome, Diagnosis
What sample is needed for Dubin-Johnson Syndrome?
- Blood is needed to get the serum.
- A random sample can be taken.
How will you define 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.
What are the 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.
- Most of the patients are asymptomatic.
What are the Risk factors that increase jaundice?
- Birth control pills.
- Use of alcohol.
- Environmental factors that may affect the liver.
How will you Diagnose 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 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)|
How will you Treat 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 that leads to an increase in the bilirubin level.
- Phenobarbitone was used but is not now recommended.
What is the outcome of Dubon-Johson syndrome?
- The picture is not gloomy and does not shorten the patient’s lifespan.
How will you describe different types of inherited jaundice?
|Clinical parameters||Unconjugated Hyperbilirubinemia||Conjugated Hyperbilirubinemia|
|Gilbert’s disease||Type 1 Criggler-Najjar||Type II Criggler-Najjar syndrome||Rotor’s syndrome||Dubon-Jhonson syndrome|
|Inherited mode||Autosomal dominant||Autosomal recessive||Autosomal dominant||Autosomal recessive||Autosomal recessive|
|Incidence||<7% of the population||Very rare||Uncommon||Rare||Uncommon|
|Age at onset||In adolescence||In infancy||
|Pathogenesis||Glucoronyl transferase enzyme deficiency (GTE)||GTE decreased||Marked decrease||Impaired conj. bilirubin excretion||Impaired cong. bilirubin excretion|
||Mainly indirect||Mainly indirect||
||Asymptomatic jaundice in young adults||Asymptomatic jaundice|
|Effect of phenobarbitone||Decreased to normal||There is no effect||Marked decrease||—–||—–|
|BSP (Dye excretion) test||May be mildly impaired in <40% of cases||It is absent||_____||Positive, Initial rapid fall and then rise in 40 to 90 minutes||Positive, Slow clearance and no rise|
|Oral cholecyctography||Normal||Normal||Normal||Normal||GB usually not visualized|
|Liver biopsy||Normal||—-||—-||No pigments||Characteristic pigments|
|Treatment||Not needed||There is no treatment||Not needed|
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.