Rotor syndrome
Rotor syndrome | |
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Other names | Rotor type hyperbilirubinemia[1] |
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Bilirubin | |
Specialty | Pediatrics, hepatology ![]() |
Symptoms | Jaundice |
Rotor syndrome (also known as Rotor type hyperbilirubinemia)
Rotor type hyperbilirubinemia is a distinct yet similar disorder to Dubin–Johnson syndrome[1] – both diseases cause an increase in conjugated bilirubin, but Rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia.[2]
Signs and symptoms
Rotor syndrome has many features in common with Dubin–Johnson syndrome, an exception being that the liver cells are not pigmented. The main symptom is a non-itching jaundice. There is a rise in bilirubin in the patient's serum, mainly of the conjugated type.
It can be differentiated from Dubin–Johnson syndrome in the following ways:[4]
Rotor syndrome | Dubin–Johnson syndrome | |
appearance of liver | normal histology and appearance | liver has black pigmentation |
gallbladder visualization | gallbladder can be visualized by oral cholecystogram | gallbladder cannot be visualized |
total urine coproporphyrin content |
high with <70% being isomer 1 | normal with >80% being isomer 1 (normal urine contains more of isomer 3 than isomer 1) |
Rotor syndrome may exacerbate toxic side effects of the medication irinotecan.[5]
Pathophysiology
Rotor syndrome is caused by mutations in two proteins responsible for transporting bilirubin and other compounds from the blood to the liver to be metabolized and cleared from the body.[2]
Coproporphyrin I, a major coproporphyrin isomer in bile, is transported from the hepatocyte back into the circulation and is excreted in the urine. Thus, urine coproporphyrin is elevated in Rotor syndrome.[2]
Genetics
Rotor syndrome is inherited in an autosomal recessive manner.
Diagnosis
Increased conjugated hyperbilirubinemia is the hallmark for diagnosing Rotor syndrome. There is no distinct black pigmentation of the liver as seen in a similar, Dubin-Johnson Syndrome. Genes, SLCO1B1 and SLCO1B3 that result in complete functional deficiencies of both protein products (OATP1B1 and OATP1B3, respectively), are also present.[citation needed]
Rotor syndrome is largely a diagnosis of exclusion.[2] Serological abnormalities in Rotor syndrome only include elevated total serum bilirubin (typically elevated between 2 and 5 mg/dL but may be as high as 20 mg/dL).[2]
Most of the time,
Imaging studies cannot diagnose Rotor syndrome but can help rule out other diseases that cause
Treatment
Rotor syndrome is a benign disease requiring no treatment.[2] Jaundice is a lifelong finding, but the disease is not associated with morbidity or mortality, and life expectancy is not affected.[2] Most individuals with Rotor syndrome are born to consanguineous couples and its diagnosis may coincidently identify consanguinity.[2] Distinguishing Rotor syndrome from other more serious disorders is important to avoid unnecessary workup and interventions.[2] It is also critical to reassure and calm patients or family members of patients with Rotors syndrome that the condition is benign.[2]
History
Rotor syndrome is named after the
See also
- Jaundice
- Bilirubin metabolism
- Gilbert's syndrome
- Crigler–Najjar syndrome
References
- ^ a b Online Mendelian Inheritance in Man (OMIM): 237450
- ^ )
- ^ PMID 766621.
- ISBN 978-1-4377-3566-6.
- ^ Iusuf, D., Ludwig, M., Elbatsh, A., van Esch, A., van de Steeg, E., & Wagenaar, E. et al. (2013). OATP1A/1B Transporters Affect Irinotecan and SN-38 Pharmacokinetics and Carboxylesterase Expression in Knockout and Humanized Transgenic Mice. Molecular Cancer Therapeutics, 13(2), 492-503. https://dx.doi.org/10.1158/1535-7163.mct-13-0541\
- PMID 22232210.
- ^ "Rotor Syndrome". NIH. U.S. Department of Health & Human Services.
- Who Named It?
External links
- Hyperbilirubinemia, Conjugated at eMedicine
- Rotor syndrome at NIH's Office of Rare Diseases
- Mentioned in MedlinePlus Encyclopedia: Jaundice – yellow skin