Dubin-johnson syndrome

Dubin–Johnson syndrome ( OMIM #237500 ) is an autosomal recessive disorder characterized by juvenile conjugated hyperbilirubinemia. It is caused by a mutation in the gene for the ABCC2/MRP2 pump on chromosome 10q24, which transports glucuronidated bilirubin and some xenobiotics from the hepatocyte to the bile ducts. Conjugated bilirubin is then transported from the hepatocytes into the blood by the ABCC3/MRP3-like pump.

The syndrome was described in 1954. Mild conjugated hyperbilirubinemia develops shortly after birth or in childhood. In addition to jaundice and bilirubinuria, abdominal pain, fatigue, and mild liver enlargement may occur. Symptoms worsen with intercurrent illnesses.

The disease is very rare, but a more frequent occurrence has been described in closed communities (in Iranian Jews it has a frequency of 1 in 1300  ).

related articles

 * Juvenile hyperbilirubinemia
 * Rotor syndrome

Reference

 * 1) ↑ SHANI, M, U SELIGSOHN and E GILON, et al. Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. QJ Med [online] . 1970, vol. 39, no. 156, pp. 549-67, also available from < https://www.ncbi.nlm.nih.gov/pubmed/5532959 >. ISSN 0033-5622.