Dubin-Johnson syndrome (DJS)
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Dubin-Johnson syndrome is a very rare type of autosomal recessive disorder characterized by conjugated hyperbilirubinemia with normal liver enzymes, results from defective transport of bilirubin glucuronide across the membrane that separates the hepatocyte from the bile canaliculi due to a defect on the chromosome 10q24.
What is the pathophysiolgy of Dubin-Johnson syndrome?
Dubin-Johnson syndrome is caused by a mutation in the gene responsible for the canalicular multispecific organic anion transporter (cMOAT) protein results of impaired secretion of conjugated bilirubin and other non-bile salt organic anions from hepatocytes into the bile.
What are the risk factors of Dubin-Johnson syndromes?
- Alcohol intake
- Infection
- Birth control pills
- Pregnancy
- Liver disease
What are the signs and symptoms of Dubin-Johnson syndromes?
Patient with the symptoms are usually asymptomatic, but some patients may present with following symptoms and signs during adulthood:
- Recurrent nonpruritic jaundice
- Right upper quadrant pain
- Weakness
- Nausea, and/or vomiting.
- Hepatosplenomegaly
How to diagnosed Dubin-Johnson syndrome?
Dubin-Johnson syndrome is diagnosed by bilirubin tests, urine test and liver biopsies.
- Serum bilirubin levels ranges form 2-5mg/dL but may be as much as 25mg/dL with normal transaminase levels.
- Urine tests shows an increase urinary excretion of coproporphyrin I and a decrease in the excretion of coproporphyrin III
- Fecal coproporphyrin levels are normal.
- 60% of patients have decreased prothrombin activity.
- Liver biopsies show the coarsely granulated pigment in hepatocyte lysosomes due to accumulation of melanin, polymerized epinephrine and other metabolites. Other than this pigmentation, the liver histology is normal.
How to managed Dubin-Johnson syndrome?
Dubin-Johnson syndrome does not require any specific therapy. Some patients are treated with Phenobarbital.
What is the prognosis of Dubin-Johnson syndrome?
It’s a benign condition so the prognosis is excellent.
References:
- emedicine.medscape.com
- www.nlm.nih.gov
- healthguide.howstuffworks.com
- www.mayoclinic.org
- www.patient.co.uk
- www.healthcentral.com
- www.wrongdiagnosis.com
- en.wikipedia.org
- books.google.com
Filed Under: Medicine
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