Thursday, 27 January 2005
Last Updated 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
