PEDBASE.org - The Pediatric Database - Detailed information of DUBIN-JOHNSON SYNDROME

DUBIN-JOHNSON SYNDROME

DEFINITION:

An inherited disorder characterized by a congenital defect in the hepatic excretion of bilirubin resulting in chronic, benign conjugated hyperbilirubinemia and jaundice.

EPIDEMIOLOGY:

incidence: rare
age of onset:
- usually after puberty but occasionally in the newborn
risk factors:
- familial - autosomal recessive
  - chrom.#: ?13q34
  - gene: ?
- M = F
- Persian Jews (1/1,300)

PATHOGENESIS:

1. Genetic Defect

genetic defect -> congenital decrease in hepatic transport of most organic anions (conjugated bilirubin, metanephrine, gluc-uronide) with normal bile salt secretion -> conjugated hyper-bilirubinemia -> jaundice
the genetic defect may result in a defect in porphyrin metabolism or excretion (90% of total urinary coproporphyrin excretion occurs as a coproporphyrin I isomer)

CLINICAL FEATURES:

1. Gastrointestinal Manifestations

usually asymptomatic mild icterus and jaundice with no pruritis
icterus exacerbated by:
- alcohol
- intercurrent infections
- oral contraceptives
- pregnancy
- surgery
occasionally
- hepatomegaly +/- splenomegaly
- vague abdominal pain
- weakness

INVESTIGATIONS:

1. Serum

conjugated hyperbilirubinemia
normal AST, ALT, albumin, cholesterol, alkaline phosphatase, PT, bile salts, CBC
factor VIII deficiency in Persian Jews

2. Biopsy

1. Liver

accumulation of a melanin derivative within lysosomes

3. Imaging Studies

1. CT (Liver)

high attenuation

MANAGEMENT:

1. Supportive

reassurance
avoid oral contraceptives

2. Prognosis

benign condition with normal life span

Pediatric Database - DUBIN-JOHNSON SYNDROME

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