DUBIN-JOHNSON SYNDROME

AND
ROTOR SYNDROME

DUBIN–JOHNSON SYNDROME
This is a rare, autosomal recessive, benign disorder that causes an
isolated increase of conjugated bilirubin in the serum. Classically, the
condition causes a black liver due to the deposition of a pigment
similar to melanin. This condition is associated with a defect in the
ability of hepatocytes to secrete conjugated bilirubin into the bile, and
is similar to Rotor syndrome. It is usually asymptomatic, but may may
be diagnosed in early infancy based on laboratory tests. No treatment
is usually needed.
DUBIN-JOHNSON SYNDROME
Dubin-Johnson syndrome also has another name: enzimopaticheskaya liver
jaundice. It arises in connection with a violation of the supply of bile from
bilirubin liver cells.
This material occurs in the body after removing the damaged or completely
destroyed red blood cells. Bilirubin collection occur in two ways:
- increasing the amount of substance coming out through the bile
- small amounts of urine go

- Dubin-Johnson syndrome
occurs when bile bilirubin
is disturbed. This is an
extremely rare disease
susceptible to more young
men (around 20-30 years
old). cases of this disease
from birth sometimes
occur. The risk of infection
after reaching the age of
50 or older is minimal.
- The genetic cause of the
syndrome, Dubin-Johnson
is a result of gene
mutation, occurs during
the export of bilirubin in
the liver and coding
proteins.

SYMPTOMS
Dubin-Johnson syndrome, whose symptoms are characteristic of other diseases, such as,
fatigue, and has its own distinctive features:
- pain in the ribs on the right
- complete lack of appetite
- there may be slight itching of the skin
- liver enlargement
- colic, which sometimes increases
- vomiting
- Rise of temperature

Manifestations are strengthened due to infectious diseases, heavy physical and

emotional load. For women, possible worsening after taking contraceptives.

TREATMENT AND PREVENTION

Dubin-Johnson syndrome, the treatment does not require taking special preparations
controlled by preventive measures:
- Adherence to a strict diet, the use of B vitamins, but without preservatives
- reduction in stressful situations
- Decreased physical activity
- Prohibition of alcoholic beverages
- Regular monitoring of bilirubin throughout the patient's life
It is also necessary to remember that pregnancy can worsen the disease.

DIAGNOSTICS
Dubin-Johnson syndrome, whose diagnosis is carried out in several stages, determined by analyzes.
- Ultrasound of the abdomen is mandatory
- General blood and urine tests
- Blood and urine analysis for bilirubin. As a rule, they are too high
- Phenobarbetalom samples
- Hepatitis markers
- bromsulfaleinova samples
- Coproporphyrin urine indexes per day
- Content of enzymes in the blood

The Bromosulfophthalein (BSP) test is characteristic of Dubin-Johnson syndrome. BSP after intravenous
injection is captured by hepatocytes, conjugated and excreted in the bile. In patients, slow BSP elimination
and its increase after several hours are observed.

ETIOPATHOGENESIS
Dubin-Johnson syndrome is an
autosomal recessive inherited
disease. It happens due to a
MRP2 gene mutation at the
10q24 locus. The result is a
disruption of conjugated
bilirubin transport to the bile
ducts. In the lobules of the liver,
a dark pigment accumulates,
which causes the organ to
become black.
 DIAGNOSTIC PROCESS Organ
The condition of
Geographically, the disease is most common among Iranian Jews. Their the organ
number reaches 70% of the total mass of sick patients.
It is important to note that the Dubin-Johnson disease is not life
threatening. Doctors have examined the life expectancy of patients with this
disease and found that it did not lead to death. It is usually
Liver
About 25% of patients experience pain in the right hypochondrium. The increased
structure of the liver is not a ected, there is no deformity caused by the
syndrome. However black spots appear in his tissues, which is a result
when the body changes its color to green or dark brown. This feature is
called Chocolate Chip Cookies. This e ect was achieved due to the
secretion of metabolites. Gallbladder and
No change
ducts
The disease has a favorable prognosis, although it can continue throughout
the patient's life.
The table presents data on the condition of the patient's internal organs.
Spleen It is often raised

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ROTOR SYNDROME
Rotor syndrome is a rare genetic
disease. There is excessive
accumulation of bilirubin in the
body. The liver has problems with
the excretion of bilirubin, which is
why it is transported into the
blood. This syndrome is very
similar to Dubin-Johnson
syndrome. Due to the elevated
bilirubin level, tests should be
done to exclude the existence of
other diseases that manifest
themselves in this way.
 Liver cells (hepatocytes) have di culty removing bilirubin from the
digestive tract. Some of it, instead of getting to the feces, returns to the
blood and is excreted in the urine. The disease is mainly manifested by
jaundice, and less often by pain or discomfort in the upper abdomen.
Because it is very rare, it is important to consider other causes of
elevated bilirubin - hepatitis, drug-induced cholestasis, cholestasis
(cholestasis), autoimmune hepatitis, hemochromatosis, antitrypsin
de ciency, mild recurrent intrahepatic cholestasis, and other conditions.
Blood, urine, abdominal ultrasound and in rare cases liver biopsy tests
will be helpful.
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SYMPTOMS
The signs of rotor syndrome are very similar to the symptoms of Dubin-Johnson syndrome:
- Indirectly expressed jaundice
- Feeling bitterness in your mouth
- Pain in the right hypochondrium
- When Dubin-Johnson, liver patients increase in size. In the case of the rotor assembly it is only
increased in some cases
- Increased bilirubin in the blood
- the liver remained normal
- Blood tests unchanged
- Liver bioptom pigment accumulation

The disease is usually asymptomatic. Sometimes signs of jaundice (yellowing of the skin and eyes) are visible
periodically. Very rarely, it manifests itself in the upper abdomen.

CAUSES OF ROTOR SYNDROME

Rotor syndrome is usually inherited, like the Dubin-Johnson syndrome. The
cause of the syndrome is a mutation in a gene that is associated with bilirubin.
Bilirubin accumulates in the liver as well as in plasma, which as a consequence
is excreted in the urine.
DIAGNOSIS
The disease can only be comprehensively diagnosed in the body.
Research conducted in the laboratory can help reveal the increased
content of bilirubin in the blood. For diagnosis it is important to know the
number of coproporphyrins contained in urine.
In most patients, the disease progresses without any symptoms.
If Rotor syndrome is diagnosed, then liver tests are conducted, such as the
following: x-rays and ultrasound.

TREATMENT
The disease is generally mild and requires no treatment. Avoid drugs
that damage the liver, alcohol, as well as infection with hepatitis viruses
(hepatitis A and B vaccinations).