Lucey-Driscoll Syndrome - case report

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dc.contributor.authorPorras Hurtado, Gloria Liliana
dc.contributor.authorCardona, Juan Sergio
dc.date2017-06-01
dc.descriptionUnconjugated 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 geneen-US
dc.descriptionLa hiperbilirrubinemia no conjugada es una condición producida por una alteración en el proceso de conjugación y excreción de la bilirr14bina. La glucoronosiltransferasa uridin difosfato es la responsable en la conjugación de la bilirrubina, es codificada por el gen de UGTlAl localizado en el brazo q del cromosoma 2 locus 37.1. La variación genética del UGTlAl puede producir diferentes fenotipos desde el más severo llamado Síndrome CriglerNajjar Tipo I y JI, pasando por el Síndrome de Gilbert; hasta una hiperbilirrubinemia transitoria neonatal o síndrome LUCEY-DRISCOLL (HBLRTFN) fenotipo OMIM 237900 con producción de kernicterus y parálisis cerebral pero con resolución espontánea, todos ellos de herencia autosómica recesiva causada por mutación homocigota o heterocigota en el gen UGTlAl. En este reporte se presenta un caso en un recién nacido que a los 7 días presenta hiperbilirrubinemia severa con kernicterus, y la prueba genética muestra mutación heterocigota del *28 del gen UGTIAl.es-ES
dc.formatapplication/pdf
dc.identifierhttps://revistas.unilibre.edu.co/index.php/cultura/article/view/4327
dc.identifier10.18041/1794-5232/cultrua.2017v14n1.4327
dc.identifier.urihttp://hdl.handle.net/10901/14622
dc.languagespa
dc.language.isospaspa
dc.publisherUniversidad Librees-ES
dc.relationhttps://revistas.unilibre.edu.co/index.php/cultura/article/view/4327/3674
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dc.relation/*ref*/Jennifer M. Skierka, BS, Katrina E. Kotzer, MS, Susan A. Lagerstedt, BS, Dennis J. O'Kane, PhD, and Linnea M. Baudhuin, PhD UGTlAl Genetic Analysis as a Diagnostic Aid for Individuals with Unconjugated Hyperbilirubinemia the journal of pediatrics 2013 in press.
dc.relation.ispartofjournalRevistas - Ciencias de la Saludspa
dc.rights.licenseAtribución-NoComercial-SinDerivadas 2.5 Colombia*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/2.5/co/*
dc.sourceCultura; Vol 14 No 1 (2017): Cultura del Cuidado; 41-47en-US
dc.sourceCultura del cuidado; Vol. 14 Núm. 1 (2017): Cultura del Cuidado; 41-47es-ES
dc.source1794-5232
dc.subject.proposalHiperbilirrubinemiaes-ES
dc.subject.proposalEnfermedad de Gilbertes-ES
dc.subject.proposalSíndrome de Crigler-Najjares-ES
dc.subject.proposalG lucuronosiltransferasaes-ES
dc.titleLucey-Driscoll Syndrome - case reporten-US
dc.titleSíndrome Lucey-Driscoll - reporte de casoes-ES
dc.type.coarhttp://purl.org/coar/resource_type/c_6501
dc.type.coarversionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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