ROTOR SYNDROME
 
PEDBASE.org - The Pediatric Database - Detailed information of ROTOR SYNDROME

 

ROTOR SYNDROME

 

DEFINITION:

An inherited disorder characterized by a congenital defect in bilirubin uptake and storage resulting in chronic, benign jaundice.

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • childhood
  • risk factors:
    • familial - autosomal recessive
      • chrom.#: ?
      • gene: ?
    • M = F

PATHOGENESIS:

1. Background

  • Rotor Syndrome and Dubin-Johnson Syndrome represent autosomal recessive disorders resulting in chronic, benign conjugated hyperbilirubinemia and jaundice

2. Genetic Defect

  • genetic defect -> deficiency of organic acid uptake and storage in the liver -> conjugated hyperbilirubinemia -> jaundice

CLINICAL FEATURES:

1. Gastrointestinal Manifestations

  • usually asymptomatic with mild icterus and jaundice with no pruritis
  • jaundice can be exacerbated by intercurrent infections

INVESTIGATIONS:

1. Serum

  • conjugated hyperbilirubinemia
  • normal AST, ALT, albumin, alkaline phosphatase, PT, bile salts, cholesterol
  • delayed plasma sulfobromophthalen excretion after IV injection

2. Urine

  • elevated total coproporphyrin excretion (2.5-5x normal) with 25% being coproporphyrin I

3. Biopsy

  • 1. Liver
    • normal

    • MANAGEMENT:

    1. Supportive

    • benign condition with a normal life span

     

    Pediatric Database - ROTOR SYNDROME

     

    Pediatric Organization - Pedbase [at] Gmail.com

     
    1994 -2007 Pedbase.org 

    Powered by Database of Pediatrics- ROTOR SYNDROME