Dubin Johnson Syndrome
Synonyms of Dubin Johnson Syndrome
- Chronic Idiopathic Jaundice
- Conjugated Hyperbilirubinemia
- Hyperbilirubinemia II
- No subdivisions found.
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.
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.
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.
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.
Symptoms of the following disorders can be similar to those of Dubin Johnson Syndrome. Comparisons may be useful for a differential diagnosis:
Rotor's Syndrome is very similar to Dubin Johnson Syndrome in that the main symptom is a yellow coloring to the skin (jaundice). However, the liver maintains a normal color. Rotor's Syndrome is very rare.
Primary Biliary Cirrhosis is a chronic progressive liver disorder thought to be related to abnormalities of the immune system. Obstruction of the small bile ducts is accompanied by yellow discoloration of the skin (jaundice). Excessive amounts of copper accumulate in the liver, and fibrous or granular hardening (induration) of the soft liver tissue develops. This disorder occurs mainly in women during the fourth to the seventh decade of life, and is marked by four progressive stages. (For more information on this disorder, choose "Cirrhosis, Primary Biliary" as your search term in the Rare Disease Database.)
Hepatitis B Virus (HBV) is one of three viruses which cause inflammation of the liver known as "Hepatitis". Hepatitis B is characterized by fever, nausea, vomiting and yellow discoloration of the skin (jaundice). In its most serious form Hepatitis B can become a chronic infection, or may cause liver cancer if left untreated. The hepatitis B virus can be passed from mother to unborn child, and is highly contagious through bodily fluids such as blood, semen and possibly saliva. It is often spread from person to person through intravenous drug use. (For more information on this disorder, choose "Hepatitis B" as your search term in the Rare Disease Database.)
There are many other liver disorders that can cause jaundice. For more information about these conditions choose "Jaundice" as your search term in the Rate Disease Database.
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.
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:
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Dubin Johnson Syndrome Resources
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
eMedicine - Dubin-Johnson Syndrome : Article by Suzanne M Carter, MS
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