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Dubin-Johnson Syndrome
Thursday, 27 January 2005
Thursday, 27 January 2005

What

Dubin-Johnson syndrome (DJS) is a very rare, inherited liver disorder characterized by jaundice, or yellowing, of the skin. It is a benign condition caused by a defective protein in the liver, which results in the accumulation of bilirubin in the skin and whites of the eyes. Bilirubin is a yellow chemical formed from the breakdown of red blood cells. It is normally taken up by the liver and excreted in the stool. In DJS, bilirubin transport in the liver does not occur properly. DJS was first described in 1954 by doctors Dubin and Johnson.

Who

DJS affects about one in 1300 people of Iranian Jewish descent. It is very rare in other ethnic groups. Boys and girls are affected equally.

Signs and Symptoms

Children with DJS usually present with jaundice during their teen years. Episodes of jaundice can be triggered by pregnancy, birth control pills, illness, alcohol, and certain other drugs. Itching is uncommon. Children with DJS may occasionally complain of vague abdominal pain and weakness. Also, the liver and spleen may become large during episodes of jaundice.

Possible Causes

DJS is caused by a mutation in the gene that makes the cMOAT protein. This gene is located on chromosome 10. The cMOAT protein transports certain organic chemicals across the cells of the liver. Without the cMOAT protein, bilirubin accumulation results. DJS is inherited in an autosomal recessive manner. This means that two mutated genes are necessary to have this disorder. The parents of the affected child are usually healthy, but each carries a copy of the mutated gene. When both parents are carriers, there is a 25% chance that each of their children will develop this disease. There is a 67% chance that their unaffected children will be carriers. DJS is not contagious or preventable.

Diagnosis

Blood bilirubin levels are mildly to moderately elevated. The urine may be darkened with the presence of bilirubin. The diagnosis of DJS is made with a urine test that measures the amounts of two chemicals called coproporphyrin I and coproporphyrin III. In DJS, the levels of these two chemicals are elevated. The diagnosis can be further confirmed by a special radiology test called an oral cholecystography. In children with DJS, the gallbladder cannot be seen during this test. Liver biopsy is not needed for diagnosis. Blood liver function tests are normal.

Treatment

DJS is a benign disorder and does not require any specific treatment. Affected persons should try to avoid alcohol, medications, or drugs that may trigger their jaundice.

Prognosis

The prognosis of DJS is excellent. Life expectancy is normal.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The American Liver Foundation (ALF) http://www.liverfoundation.org National nonprofit organization providing research, information about clinical trials, news, fundraising events, education and advocacy. NIH/National Institute of Diabetes, Digestive and Kidney Diseases Endocrine Diseases Metabolic Diseases Branch http://www.niddk.nih.gov National organization providing information, support, and newsletters. Children’s Liver Association for Support Services (C.L.A.S.S.) http://www.classkids.org/ All-volunteer, nonprofit organization providing telephone helpline, newsletter, networking, education, and financial support.

Google Search for Dubin-Johnson Syndrome

References and Sources

www.nlm.nih.gov/medlineplus/ency/article/000242.htm www.emedicine.com/med/topic588.htm www.emedicine.com/ped/topic621.htm www.pennhealth.com/ency/article/000242.htm http://www.icomm.ca/geneinfo/dubin.htm