Dubin-Johnson syndrome
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
- Medical encyclopedia article on Dubin-Johnson syndrome
- Wikipedia's article - Dubin-Johnson syndrome
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