Rotor syndrome is a hereditary disorder characterized by jaundice due to an increase of bilirubin in the blood. The only symptom is usually jaundice. It is inherited in an autosomal recessive pattern but the underlying genetic defect is unknown. Diagnosis is based on laboratory findings showing elevated levels of both conjugated and unconjugated bilirubin in the blood as well as elevated urinary coproporphyrin levels.
Rotor syndrome is a hereditary disorder characterized by jaundice due to an increase of bilirubin in the blood. The only symptom is usually jaundice. It is inherited in an autosomal recessive pattern but the underlying genetic defect is unknown. Diagnosis is based on laboratory findings showing elevated levels of both conjugated and unconjugated bilirubin in the blood as well as elevated urinary coproporphyrin levels.
Copyright:
Attribution Non-Commercial (BY-NC)
Available Formats
Download as DOC, PDF, TXT or read online from Scribd
Rotor syndrome is a hereditary disorder characterized by jaundice due to an increase of bilirubin in the blood. The only symptom is usually jaundice. It is inherited in an autosomal recessive pattern but the underlying genetic defect is unknown. Diagnosis is based on laboratory findings showing elevated levels of both conjugated and unconjugated bilirubin in the blood as well as elevated urinary coproporphyrin levels.
Copyright:
Attribution Non-Commercial (BY-NC)
Available Formats
Download as DOC, PDF, TXT or read online from Scribd
• 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.
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.
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.