chronic idiopathic jaundice (Dubin-Johnson syndrome)

Epidemiology: - rare - associated in Iranian Jews with factor VII deficiency Pathology: - genetic disorder of bilirubin secretion - hepatic uptake & conjugation of bilirubin is normal but excretion of conjugated bilirubin into bile is impaired - deposition of melanin-like pigment in hepatocytes - otherwise normal liver function Genetics: - autosomal recessive - associated with defects in ABCC2 Clinical manifestations: patients are generally asymptomatic. Laboratory: 1) serum bilirubin: a) conjugated hyperbilirubinemia b) plasma bilirubin diglucuronide ranges from 2-20 mg/dL 2) urine coproporphyrin levels are normal or slightly increased, with a relative increase in urinary corproporphyrin I with respect to corproporphyrin III 3) IV sulfobromophthalein a) retention of sulfobromophthalein b) 2nd plasma peak level 45-90 minutes after injection Radiology: - oral cholecystograms do not visualize Management: 1) prognosis is excellent 2) phenobarbital may lower serum bilirubin diglucuronide in some patients

Properties

ACCUMULATION: bilirubin diglucuronide

References

Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 372