All::Gastroenterology::Diseases::Dubin-Johnson syndrome
Intro
What is the inheritance pattern of Dubin-Johnson syndrome?
autosomal recessive
What are the main clinical features of Dubin-Johnson syndrome?
hyperbilirubinaemia (conjugated, therefore present in urine)
What is the pathophysiology of Dubin-Johnson syndrome?
defect in the canillicular multispecific organic anion transporter (cMOAT) protein. This causes defective hepatic bilirubin excretion