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Detailed information of CRIGLER-NAJJAR SYNDROME - I
CRIGLER-NAJJAR SYNDROME - I
DEFINITION:
An inherited disorder of bilirubin metabolism resulting in
chronic, severe unconjugated hyperbilirubinemia and jaundice.
EPIDEMIOLOGY:
- incidence: rare (about 70 cases reported)
- age of onset:
- newborn (2nd to 3rd week of life)
- risk factors:
- familial - autosomal recessive
- chrom.#: 1q21-q23
- gene: UDP-glucuronosyltransferase
- M = F
PATHOGENESIS:
- UDP-glucuronosyltransferase is an enzyme which conjugates
bili-rubin in the liver
- there are two forms of Crigler-Najjar Syndrome based upon
the degree of UDP-glucuronosyltrasferase deficiency:
- Type I: severe form
- Type II: mild-moderate form (also called Gilbert Syndrome)
2. Genetic Defect
- genetic defect -> reduced UDP-glucuronosyltransferase
activity -> persistent unconjugated hyperbilirubinemia -> toxic
effect of unconjugated bilirubin on tissues (i.e., CNS ->
kernicterus)
CLINICAL FEATURES:
- persistent icterus and jaundice
- pale yellow stools
2. Neurological Manifestations
INVESTIGATIONS:
- unconjugated hyperbilirubinemia
- normal AST, ALT, alkaline phosphatase, bile salts
2. Biopsy (Closed)
3. Diagnostic
- deficiency of UDP-glucuronsyltransferase activity in hepatic
samples
MANAGEMENT:
- chronic phototherapy
- exchange transfusions
2. Surgery
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Pediatric Database - CRIGLER-NAJJAR SYNDROME - I
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