Assignment

Rotor syndrome

• is a hereditary disorder of bilirubin metabolism. In Rotor syndrome

there is an increase in the amount of bilirubin in the blood
(hyperbilirubinemia). Rotor syndrome is characterized by jaundice, which is a
yellowing of the skin and whites of the eyes. It is inherited in an autosomal
recessive fashion. The underlying genetic defect has not been determined.

Signs and symptoms of Rotor syndrome?

• Jaundice is usually the only symptom of Rotor syndrome. Some people

with Rotor syndrome develop nonspecific symptoms. Unlike other
causes of hyperbilirubinemia, itchiness (pruritus) is not a symptom of
Rotor syndrome. Rotor syndrome is not associated with an increased
risk for liver scarring (liver fibrosis or cirrhosis).

Causes Rotor syndrome

• In Rotor syndrome there is a problem with the storage of bilirubin in

liver cells resulting in the leakage of bilirubin into the blood. Rotor
syndrome is passed through families in an autosomal recessive
fashion. The underlying genetic defect has not yet been identified.

Rotor syndrome diagnosis:

• Rotor syndrome is diagnosed based on a collection of laboratory and

clinical findings. In Rotor syndrome serum liver studies, blood count,
lipids, and serum albumin are normal. The excess bilirubin in the blood
is a combination of unconjugated and conjugated (conjugated bilirubin
has a sugar added to it, while unconjugated bilirubin does not). Bilirubin
levels tend to be between 50-100nM/l but levels over 400mN/l are
possible. Oral contraceptives and pregnancy can increase
hyperbilirubinemia. Liver biopsy is not necessary, but does not show
abnormalities. In Rotor syndrome the total coproporphyrin excretion in
urine is elevated 2 to 5 fold with 65% of cases constituting
coproporphyrin I. The coproporphyrin urine excretion analysis is useful
in differentiating Rotor syndrome from a similar disorder called Dubin-
Johnson syndrome.

References

1. Strassburg CP. Hyperbilirubinemia syndromes (Gilbert-

Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).
Best Pract Res Clin Gastroenterol. 2010 Oct.
2. Crawford JM, Liu C. Robbins and Cotran Pathologic Basis of
Disease, Professional Edition , 8th ed. In: . Liver and Biliary Tract.
Philadelphia, PA:Saunders; 2009:
 Assignment

Dubin-Johnson syndrome

is a type of hereditary hyperbilirubinemia with a relatively benign

course. Symptoms may include a yellowish color to the skin (jaundice), and a
liver that is sometimes enlarged and tender. The symptoms often do not
present until puberty or adulthood. The syndrome interferes with the body's
ability to move bilirubin from the liver. In most cases, treatment is not
required.

References

1. Habashi SL, Lambiase LR, MK Anand, KJ Mishark, Nguyen C . Dubin-

Johnson Syndrome. eMedicine. October 10, 2006 Available
at: http://emedicine.medscape.com/article/173517-overview. Accessed
December 19, 2008.
2. Dubin Johnson Syndrome. National Organization for Rare Disorders
(NORD). 2007 Available
at: http://www.rarediseases.org/search/rdbdetail_abstract.html?
disname=Dubin%20Johnson%20Syndrome. Accessed December 19,
2008.
3. Dugdale, DC. Dubin-Johnson syndrome. MedlinePlus. July 22, 2008
Available
at: http://www.nlm.nih.gov/medlineplus/ency/article/000242.htm.
Accessed December 19, 2008.