Dubin-Johnson syndrome

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Dubin-Johnson syndrome (pronunciation: duːbɪn dʒɒnsən sɪndroʊm) is a rare, inherited disorder that affects the liver. It is characterized by chronic, benign, intermittent jaundice, and is often associated with the deposition of a dark pigment in the liver.

Etymology

The syndrome is named after the American physicians, Dr. R. Dubin and Dr. D. Johnson, who first described the condition in 1954.

Symptoms

The main symptom of Dubin-Johnson syndrome is jaundice, which is a yellowing of the skin and eyes. Other symptoms may include mild hepatomegaly (enlargement of the liver), and in some cases, splenomegaly (enlargement of the spleen).

Causes

Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene. This gene provides instructions for making a protein that is essential for the normal function of the liver. Mutations in the ABCC2 gene disrupt the function of this protein, leading to the symptoms of Dubin-Johnson syndrome.

Diagnosis

Diagnosis of Dubin-Johnson syndrome is typically made through a combination of clinical examination and laboratory tests, including liver function tests and genetic testing.

Treatment

There is no specific treatment for Dubin-Johnson syndrome. Management of the condition is focused on relieving symptoms and preventing complications.

Related Terms

See Also

External links

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