Dubin-Johnson syndrome and Rotor syndrome (hyperbilirubinaemia)

• What is Dubin-Johnson syndrome, and Rotor syndrome
• Statistics on Dubin-Johnson syndrome, and Rotor syndrome
• Risk Factors for Dubin-Johnson syndrome, and Rotor syndrome
• Progression of Dubin-Johnson syndrome, and Rotor syndrome
• Symptoms of Dubin-Johnson syndrome, and Rotor syndrome
• Clinical Examination of Dubin-Johnson syndrome, and Rotor syndrome
• How is Dubin-Johnson syndrome, and Rotor syndrome Diagnosed?
• Prognosis of Dubin-Johnson syndrome, and Rotor syndrome
• How is Dubin-Johnson syndrome, and Rotor syndrome Treated?
• Dubin-Johnson syndrome, and Rotor syndrome References

What is Dubin-Johnson syndrome, and Rotor syndrome

Dubin-Johnson and Rotor syndrome are both characterised by congenital hyperbilirubinaemia. In other words, both Dubin-Johnson and Rotor syndrome are inherited syndromes in which the liver can not adequately excrete bilirubin (the breakdown product of haemoglobin -which in turn is the molecule which carries oxygen in the blood).

Statistics on Dubin-Johnson syndrome, and Rotor syndrome

Dubin-Johnson and Rotor syndrome are uncommon worldwide. Dubin -Johnson syndrome has a higher frequency among Arabian Jews (1:1300)

Risk Factors for Dubin-Johnson syndrome, and Rotor syndrome

Both syndromes are inherited.

Dubin-Johnson is inherited in an autosomal recessive manner.This means a person will only have Dubin-Johnson syndrome if they have inherited a pair (i.e one from each parent) of defective/abnormal gene.

Rotor syndrome is believed to be inherited in an autosomal dominant manner. This means that a person only needs to inherit one defective/abnormal gene from either parent to have Rotor Syndrome.

Progression of Dubin-Johnson syndrome, and Rotor syndrome

Both syndromes may present with persistent or recurrent jaundice of variable severity, but most patients exhibit no other symptoms.

How is Dubin-Johnson syndrome, and Rotor syndrome Diagnosed?

Liver function tests may indicate a raised bilirubin level with a predominant conjugated fraction.
Other tests are normal indicating a benign cause.

Prognosis of Dubin-Johnson syndrome, and Rotor syndrome

Prognosis is excellent and life expectancy is normal in both syndromes.

How is Dubin-Johnson syndrome, and Rotor syndrome Treated?

No specific treatment is required.

Dubin-Johnson syndrome, and Rotor syndrome References

1. Braunwald, Fauci, Kasper, Hauser, Longo, Jameson. Harrison’s Principles of Internal Medicine. 15th Edition. McGraw-Hill. 2001.

 

• Cotran, Kumar, Collins 6th edition. Robbins Pathologic Basis of Disease. WB Saunders Company. 1999.
• Kumar P, Clark M. CLINICAL MEDICINE. WB Saunders 2002 Pg 427-430.