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A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report.
- Source :
- BMC Pediatrics; 5/29/2019, Vol. 19 Issue 1, pN.PAG-N.PAG, 1p, 1 Chart, 1 Graph
- Publication Year :
- 2019
-
Abstract
- <bold>Background: </bold>Crigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a severe (type I) and mild (type II) phenotype. CNs type II patients usually benefit from phenobarbital treatment that induces residual UGT1A1 activity.<bold>Case Presentation: </bold>Here we present a CNs type II patient that is not responsive to phenobarbital treatment, which can be explained by two heterozygous mutations in the UGT1A1 gene. A 3 nucleotide insertion in the HNF-1α binding site in the proximal promoter previously reported in a Crigler-Najjar patient on one allele and a novel two nucleotide deletion in exon 1, resulting in a frameshift and a premature stop codon.<bold>Conclusion: </bold>In newly diagnosed CNs patients with unconjugated bilirubin levels consistent with CNs type II but that are unresponsive to phenobarbital treatment, disruption of the HNF-1α binding site in the proximal promoter should be considered as a probable cause. Upon confirming a mutation in the HNF-1α site, phenobarbital treatment should be stopped or at least be reconsidered because of its sedative effects and its teratogenic properties. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14712431
- Volume :
- 19
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- BMC Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 136713773
- Full Text :
- https://doi.org/10.1186/s12887-019-1555-y