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

• serum bilirubin:
  • conjugated hyperbilirubinemia
  • plasma bilirubin diglucuronide ranges from 2-20 mg/dL
• urine coproporphyrin levels are normal or slightly increased, with a relative increase in urinary corproporphyrin I with respect to corproporphyrin III
• IV sulfobromophthalein
  • retention of sulfobromophthalein
  • 2nd plasma peak level 45-90 minutes after injection

Radiology

• oral cholecystograms do not visualize

Management

• prognosis is excellent
• phenobarbital may lower serum bilirubin diglucuronide in some patients

More general terms

• bilirubin metabolism, inborn error

Database

• OMIM: https://mirror.omim.org/entry/237500