CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0367/03673.txt

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$Unique_ID{BRK03673}
$Pretitle{}
$Title{Dubin Johnson Syndrome}
$Subject{Dubin Johnson Syndrome Conjugated Hyperbilirubinemia DJS
Hyperbilirubinemia II Chronic Idiopathic Jaundice Rotor Syndrome Cirrhosis
Primary Biliary Hepatitis B}
$Volume{}
$Log{}

Copyright (C) 1990, 1991 National Organization for Rare Disorders, Inc.

731:
Dubin Johnson Syndrome

** IMPORTANT **
It is possible that the main title of the article (Dubin Johnson
Syndrome) is not the name you expected.  Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

     Conjugated Hyperbilirubinemia
     DJS
     Hyperbilirubinemia II
     Chronic Idiopathic Jaundice

Information on the following diseases can be found in the Related
Disorders section of this report:

     Rotor Syndrome
     Cirrhosis, Primary Biliary
     Hepatitis B

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

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 will be a
longer than normal retention of sulfobromophthalein, which is a
triphenylmethane derivative excreted by the liver and used in testing its
function.  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 one receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

Affected Population

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.

Related Disorders

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.

Therapies:  Standard

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.

Therapies:  Investigational

The FDA has approved the following drug for testing as treatment for Dubin
Johnson Syndrome:

The orphan drug Zixoryn (flumecinol) is being tested for treatment of
hybilirubinemia in newborn infants unresponsive to phototherapy.  The drug is
manufactured by Farmacon, Westport, CT.

This disease entry is based upon medical information available through
May 1991.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Dubin Johnson Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     American Liver Foundation
     1425 Pompton Ave.
     Cedar Grove, N.J.  07009
     [phone]
     [phone]

     The United Liver Foundation
     11646 West Pico Blvd.
     Los Angeles, CA  90064
     [phone] or 445-4200

     Children's Liver Foundation
     14245 Ventura Blvd.
     Sherman Oaks, CA  91423
     [phone]

     Jewish National Foundation for Genetic Diseases
     250 Park Ave. Suite 1000
     New York, NY 10177

     National Digestive Diseases Information Clearinghouse
     Box NDDIC
     Bethesda, MD  20892
     [phone]

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp. 996.

THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.:  John B. Stanbury, et
al., eds.;  McGraw Hill, 1983.  Pp. 1405-1409.

BILE SALT TRANSPORT IN THE DUBIN-JOHNSON SYNDROME, J.G. Douglas, et al.;
Gut (October, 1980, issue 21 (10)).  Pp. 890-893.