Rotor syndrome

Rotor syndrome is an autosomal recessive disorder which results in a conjugated hyperbilinaemia. It is very similar to Dubin Johnson syndrome.

The differences between Rotor syndrome and Dubin Johnson are: 

• Liver in Dubin Johnson syndrome has black pigmentation while liver in Rotor syndrome does not
• Dubin-Johnson has nearly 90% of its urinary coproporphyrin excreted as coproporphyrin I while Rotor syndrome has around 60% excreted as coproporphyrin I 
• Sulfobromophthalein excretion is also different between the 2 but due to reports of fatal anaphylactic reactions to sulfobromophthalein this test is no longer advised. 

References:

OMIM: Hyperbilirubinemia. Rotor type. Available at http://omim.org/entry/237450?search=rotor&highlight=rotor. 

Fretzayaz, A. et al. Cholescintigraphy in the diagnosis of Rotor syndrome. J Nucl Med. 1994; 35(6): 1048-1050. 

Summary of hereditary hyperbilinaemias:

Gilbert syndrome: unconjugated hyperbilinaemia

Crigler-Najjar: unconjugated hyperbilinaemia

Dubin Johnson syndrome: conjugated hyperbilinaemia

Rotor syndrome: conjugated hyperbilinaemia

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Dubin Johnson Syndrome

Dubin Johnson syndrome is an autosomal recessive condition which results in a conjugated hyperbilinaemia.

It is caused by a mutation in the CMOAT gene resulting in the absence of a functional multidrug resistance protein 2 from the hepatocyte canalicular membrane.

Presentation

• Jaundice 
• Abdominal pain 
• Dark urine 

Other features of Dubin Johnson syndrome 

• Increased urinary excretion of coproporphyrin isomer I - more isomer I excreted than isomer III (in normal patients, more isomer III is excreted)
• Black pigmentation of liver 
• Prolonged retention of sulfobromophthalein 

It is benign and no specific treatment is required. 

References:

Keitel, V. et al. A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). Am J Physiol Gastriintest Liver Physiol. 2003; 284(1): 165-174. 

OMIM: Dubin Johnson syndrome. Available at http://omim.org/entry/237500?search=dubin&highlight=dubin

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