PMID: 20890816Oct 5, 2010

Type I Crigler Najjar syndrome in Tunisia: a study of 30 cases

La Tunisie médicale
Hajer AloulouMongia Hachicha

Abstract

Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate (UDP) glucuronosyltransferase activity in the liver. To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia. This is a retrospective report of Crigler Najjar cases who were hospitalised in pediatric department of Hédi Chaker hospital during 21 years (from 1st January to 31 December 2006). Our study included 30 cases of Crigler-Najjar syndrome; there were 10 females and 20 males (sex ratio = 2). The mean age of our patients was 41 days (4 days - 9 months). All patients were presented with intense jaundice. Sixteen patients had neurologic disorders since admission. Genetic analysis was performed in 9 patients; we identified the same mutation in all cases: -C1070>G in exon 3 of the UDP glucuronyl transferase. Concerning therapeutic measurements, conventional phototherapy was used in all patients. A fatal out come was observed in 28 case; they died of kernicterus. Crigler-Najjar syndrome is a serious disorder which, when not treated, ultimately leads to brain damage (bilirubin encephalopathy) and death. That's why we must...Continue Reading

Related Concepts

Crigler Najjar Syndrome, Type 1
Phototherapy
Retrospective Studies
UDP-Glucuronic Acid 3-O-beta-D-Galactosyl-D-Galactose Glucuronosyltransferase
Crigler Najjar Syndrome, Type 1
Cessation of Life
Exons
Kernicterus
Liver
Metabolic Diseases

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