Dubin Johnson Syndrome

Dubin Johnson Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Dubin Johnson Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Chronic Idiopathic Jaundice
  • Conjugated Hyperbilirubinemia
  • DJS
  • Hyperbilirubinemia II

Disorder Subdivisions

  • None

General Discussion

Dubin Johnson Syndrome is a rare genetic liver disorder that tends to affect people of Middle Eastern Jewish heritage disproportionately to other groups. It appears to be associated with clotting factor VII in this population. Symptoms may include a yellowish color to the skin (jaundice), and a liver that is sometimes enlarged and tender.

Symptoms

Jaundice, which is caused by excess bilirubin (bile pigment), is usually the only symptom of Dubin Johnson Syndrome. Otherwise a physical examination is normal. The disorder rarely appears before puberty. Occasionally the patient may have an enlarged and tender liver and complain of weakness and a painful abdomen, but the liver will function normally. There may sometimes be a mild recurrence of the jaundice. Pregnancy or use of oral contraceptives may cause the disease to become apparent in women when no symptoms appeared previously.

Causes

Dubin Johnson Syndrome is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Dubin Johnson Syndrome is a rare disease that affects males and females in equal numbers. The disorder can occur in all races. However, among Iranian, Iraqi and Moroccan Jews the incidence is as high as 1 in 1300. In Japan an unusually high incidence of Dubin-Johnson Syndrome was found in an isolated area where there was a high rate of intermarriage. Age at onset can be anytime between 10 weeks of age to 56 years.

Standard Therapies

Treatment of Dubin Johnson Syndrome is symptomatic and supportive. In many cases patients may require no treatment even though they have recurrent mild jaundice. However, metabolism of certain drugs may be affected in patients with Dubin-Johnson Syndrome since many pharmaceutical products are metabolized in the liver. Therefore, medications should be carefully supervised by a physician. Genetic counseling may be of benefit for patients and their families affected by Dubin Johnson Syndrome.

Investigational Therapies

Flumecinol (Zixoryn) has been designated an "Orphan Drug" for the treatment of hybilirubinemia in newborn infants who are unresponsive to phototherapy. The drug is manufactured by:



Farmacon, Inc.,

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References

The Merck Manual 17TH ED., M. H. Beers and R. Berkow, Eds., Merck Research Laboratories, 1999. P. 356.



Mendelian Inheritance In Man, 11th ed.: Victor A. McKusick; Johns Hopkins University Press, 1994. P. 1905.



The Metabolic Bases of Inherited Disease, 7th Ed.: Charles R. Scriver, et al., eds.; McGraw Hill, 1995. Pp. 2187-90.



Clinical Quiz. Dubin-Johnson Syndrome or Rotor Syndrome. C.P. The et al., Pediatr Nephrol. (Sep 1999, 13 (7)). Pp. 627-28.



The Hereditary Hyper Bilirubinanaemias. M. J. Nowicki et al., Ballieres Clin Gastroenterol. (Jun 1998, 12 (2)). Pp. 355-67.



Neonatal And Infantile Dubin-Johnson Syndrome. Y. Haimi-Cohen et al., Pediatr Radiol. (Nov 1998, 28 (11)). Pp. 900.



Dubin-Johnson Syndrome as a Cause of Neonatal Jaundice: The Importance of Coproporphyrins Investigation. Y. Haimi-Cohen et al., Clin Pediatr (Phila). (Aug 1998, 37 (8)). Pp. 511-13.



A Mutation of the Human Canalicular Multispecific Organic Anion Transporter Gene Causes the Dubin-Johnson Syndrome. C. C. Paulusma et al., Hepatology. (Jun 1997, 25 (6)). Pp. 1539-42.



FROM THE INTERNET

eMedicine - Dubin-Johnson Syndrome : Article by Samir L Habashi, MD

www.emedicine.com/med/topic588.htm



eMedicine - Dubin-Johnson Syndrome : Article by Suzanne M Carter, MS

www.emedicine.com/ped/topic621.htm

Resources

American Liver Foundation

39 Broadway, Suite 2700

New York, NY 10006

USA

Fax: (212)483-8179

Tel: (800)465-4837

Email: http://www.liverfoundation.org/contact/

Internet: http://www.liverfoundation.org



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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