La Tunisie medicale · 2010
[Type I Crigler Najjar syndrome in Tunisia: a study of 30 cases].
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Aloulou Hajer, Ben Thabet Afef, Khanfir Sonia, Ben Mansour Lamia, Chabchoub Imen, Labrune Phillipe, Kammoun Thouraya, Hachicha Mongia
Аннотация
BACKGROUND: 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.
AIM: To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia.
METHODS: 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).
RESULTS: 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.
CONCLUSION: 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 promote prenatal diagnosis and genetic council especially because of the big frequency of consanguinity in our country.
AIM: To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia.
METHODS: 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).
RESULTS: 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.
CONCLUSION: 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 promote prenatal diagnosis and genetic council especially because of the big frequency of consanguinity in our country.