Lucey-Driscoll Syndrome - case report

Authors

  • Gloria Liliana Porras Hurtado, PhD. Universidad Libre
  • Juan Sergio Cardona Universidad Libre

DOI:

https://doi.org/10.18041/1794-5232/cultrua.2017v14n1.4327

Keywords:

Hyperbilirrubinemia, Gilbert Disease, Crigler-Najjar Syndrome, Glucuronosyltransferase.

Abstract

Unconjugated hyperbilirubinemia i s produced by alteration in conjugation and excretion process of bilirubin. Glucoronosiltransferasa Uridine diphosphate enzyme i s involved in bilirubin conjugation. Is encoded by the UGTlAl gene located in chromosome 2q locus 37.1. UGTlAl genetic variation can produce different phenotypes CriglerNajjar Syndrome Type 1 and II, Gilbert Syndrome, and hyperbilirubinemia transited familia[ LUCEY-DRISCOLL (HBLRTFN) syndrome with kernicterus production but with spontaneous resolution, all autosomal recessive. We present here a case of newborn 7 days old with severe hyperbilirubinemia , kernicterus, and genetic testing shows heterozygous mutation of the UGTlAl >+ · 28 gene

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Published

2017-06-01