Crigler-Najjar syndrome type 2 – an atypical case
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Scientia Medica (Porto Alegre. Online) |
Texto Completo: | https://revistaseletronicas.pucrs.br/scientiamedica/article/view/16572 |
Resumo: | AIMS: The authors describe a case of Crigler-Najjar syndrome type 2, an inherited disorder of bilirubin metabolism resulting from a partial deficit of the enzyme uridine- diphospho-glucuronyl transferase (UDPG-T). CASE DESCRIPTION: A female infant of Asian ethnicity was admitted with five weeks of age by persistent jaundice since birth, with maternal report of progressive worsening. Upon physical examination the patient was active, reactive, and jaundiced, with mild axial hypotonia. Complementary examination showed increase in total bilirubin (32.94 mg/dL), with direct bilirubin of 0.94 mg/dL, and molecular study revealed two heterozygous mutations in the UGT1A1 gene (c.211G>A and c.1456T>G), consistent with Crigler-Najjar syndrome type 2. She was submitted to intensive phototherapy in combination with bile acid chelator, with a partial response. After reading the results of molecular studies, phenobarbital was started, leading to normal levels of bilirubin in two weeks. CONCLUSIONS: Crigler-Najjar syndrome type 2, although phenotypically similar to type 1, has different prognosis and treatment. In this case, early neonatal presentation and very high bilirubin values not fully yielded to intensive phototherapy, initially raised the suspicion of Crigler-Najjar syndrome type 1, which is the most severe form of the syndrome. With this report, the authors wish to draw attention to a rare cause of jaundice, which did not have its typical course. |
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Crigler-Najjar syndrome type 2 – an atypical caseSíndrome de Crigler-Najjar tipo 2 – um caso atípicoJAUNDICENEONATALBILIRUBINCRIGLER-NAJJAR SYNDROMEPHOTOTHERAPYICTERÍCIA NEONATALBILIRRUBINASÍNDROME DE CRIGLER-NAJJARFOTOTERAPIAAIMS: The authors describe a case of Crigler-Najjar syndrome type 2, an inherited disorder of bilirubin metabolism resulting from a partial deficit of the enzyme uridine- diphospho-glucuronyl transferase (UDPG-T). CASE DESCRIPTION: A female infant of Asian ethnicity was admitted with five weeks of age by persistent jaundice since birth, with maternal report of progressive worsening. Upon physical examination the patient was active, reactive, and jaundiced, with mild axial hypotonia. Complementary examination showed increase in total bilirubin (32.94 mg/dL), with direct bilirubin of 0.94 mg/dL, and molecular study revealed two heterozygous mutations in the UGT1A1 gene (c.211G>A and c.1456T>G), consistent with Crigler-Najjar syndrome type 2. She was submitted to intensive phototherapy in combination with bile acid chelator, with a partial response. After reading the results of molecular studies, phenobarbital was started, leading to normal levels of bilirubin in two weeks. CONCLUSIONS: Crigler-Najjar syndrome type 2, although phenotypically similar to type 1, has different prognosis and treatment. In this case, early neonatal presentation and very high bilirubin values not fully yielded to intensive phototherapy, initially raised the suspicion of Crigler-Najjar syndrome type 1, which is the most severe form of the syndrome. With this report, the authors wish to draw attention to a rare cause of jaundice, which did not have its typical course.OBJETIVOS: Os autores descrevem um caso de Síndrome de Crigler-Najjar tipo 2, um distúrbio hereditário do metabolismo da bilirrubina, resultante de um déficit parcial da enzima uridino-difosfo-glicuronil-transferase (UDPG-T). DESCRIÇÃO DO CASO: Uma lactente de etnia asiática foi internada com cinco semanas de vida por icterícia persistente desde o nascimento, com relato materno de agravamento progressivo. Ao exame objetivo apresentava-se ativa, reativa, ictérica e com ligeira hipotonia axial. A investigação complementar mostrou um aumento da bilirrubina total (32,94 mg/dL), com bilirrubina direta de 0,94 mg/dL, e o estudo molecular revelou duas mutações em heterozigotia no gene UGT1A1 (c.211G>A e c.1456T>G), resultado compatível com síndrome de Crigler-Najjar tipo 2. Foi submetida a fototerapia intensiva em associação com quelante dos ácidos biliares, com resposta parcial. Após conhecimento do resultado do estudo molecular iniciou fenobarbital, ocorrendo normalização dos valores de bilirrubina após duas semanas. CONCLUSÕES: A síndrome de Crigler-Najjar tipo 2, embora fenotipicamente semelhante ao tipo 1, tem tratamento e prognóstico diferentes. Neste caso, a apresentação neonatal precoce e os valores de bilirrubina muito elevados, que não cediam totalmente à fototerapia intensiva, levaram inicialmente à suspeita de síndrome de Crigler-Najjar tipo 1, que é a forma mais grave. Os autores pretendem com este caso alertar para uma causa rara de icterícia, que não teve a apresentação típica.Editora da PUCRS - ediPUCRS2014-06-24info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRelato de caso raro ou de especial interesseapplication/pdfhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/1657210.15448/1980-6108.2014.2.16572Scientia Medica; Vol. 24 No. 2 (2014); 168-172Scientia Medica; v. 24 n. 2 (2014); 168-1721980-61081806-556210.15448/1980-6108.2014.2reponame:Scientia Medica (Porto Alegre. Online)instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)instacron:PUC_RSporhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/16572/11509Raposo, FilipaMorais, Margarida ReisPinheiro, MarinaCosta, MarianaMartinho, IsabelMendanha, SérgioSalgado, Miguelinfo:eu-repo/semantics/openAccess2017-08-28T14:51:17Zoai:ojs.revistaseletronicas.pucrs.br:article/16572Revistahttps://revistaseletronicas.pucrs.br/scientiamedica/PUBhttps://revistaseletronicas.pucrs.br/scientiamedica/oaiscientiamedica@pucrs.br || editora.periodicos@pucrs.br1980-61081806-5562opendoar:2017-08-28T14:51:17Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)false |
dc.title.none.fl_str_mv |
Crigler-Najjar syndrome type 2 – an atypical case Síndrome de Crigler-Najjar tipo 2 – um caso atípico |
title |
Crigler-Najjar syndrome type 2 – an atypical case |
spellingShingle |
Crigler-Najjar syndrome type 2 – an atypical case Raposo, Filipa JAUNDICE NEONATAL BILIRUBIN CRIGLER-NAJJAR SYNDROME PHOTOTHERAPY ICTERÍCIA NEONATAL BILIRRUBINA SÍNDROME DE CRIGLER-NAJJAR FOTOTERAPIA |
title_short |
Crigler-Najjar syndrome type 2 – an atypical case |
title_full |
Crigler-Najjar syndrome type 2 – an atypical case |
title_fullStr |
Crigler-Najjar syndrome type 2 – an atypical case |
title_full_unstemmed |
Crigler-Najjar syndrome type 2 – an atypical case |
title_sort |
Crigler-Najjar syndrome type 2 – an atypical case |
author |
Raposo, Filipa |
author_facet |
Raposo, Filipa Morais, Margarida Reis Pinheiro, Marina Costa, Mariana Martinho, Isabel Mendanha, Sérgio Salgado, Miguel |
author_role |
author |
author2 |
Morais, Margarida Reis Pinheiro, Marina Costa, Mariana Martinho, Isabel Mendanha, Sérgio Salgado, Miguel |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Raposo, Filipa Morais, Margarida Reis Pinheiro, Marina Costa, Mariana Martinho, Isabel Mendanha, Sérgio Salgado, Miguel |
dc.subject.por.fl_str_mv |
JAUNDICE NEONATAL BILIRUBIN CRIGLER-NAJJAR SYNDROME PHOTOTHERAPY ICTERÍCIA NEONATAL BILIRRUBINA SÍNDROME DE CRIGLER-NAJJAR FOTOTERAPIA |
topic |
JAUNDICE NEONATAL BILIRUBIN CRIGLER-NAJJAR SYNDROME PHOTOTHERAPY ICTERÍCIA NEONATAL BILIRRUBINA SÍNDROME DE CRIGLER-NAJJAR FOTOTERAPIA |
description |
AIMS: The authors describe a case of Crigler-Najjar syndrome type 2, an inherited disorder of bilirubin metabolism resulting from a partial deficit of the enzyme uridine- diphospho-glucuronyl transferase (UDPG-T). CASE DESCRIPTION: A female infant of Asian ethnicity was admitted with five weeks of age by persistent jaundice since birth, with maternal report of progressive worsening. Upon physical examination the patient was active, reactive, and jaundiced, with mild axial hypotonia. Complementary examination showed increase in total bilirubin (32.94 mg/dL), with direct bilirubin of 0.94 mg/dL, and molecular study revealed two heterozygous mutations in the UGT1A1 gene (c.211G>A and c.1456T>G), consistent with Crigler-Najjar syndrome type 2. She was submitted to intensive phototherapy in combination with bile acid chelator, with a partial response. After reading the results of molecular studies, phenobarbital was started, leading to normal levels of bilirubin in two weeks. CONCLUSIONS: Crigler-Najjar syndrome type 2, although phenotypically similar to type 1, has different prognosis and treatment. In this case, early neonatal presentation and very high bilirubin values not fully yielded to intensive phototherapy, initially raised the suspicion of Crigler-Najjar syndrome type 1, which is the most severe form of the syndrome. With this report, the authors wish to draw attention to a rare cause of jaundice, which did not have its typical course. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-06-24 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Relato de caso raro ou de especial interesse |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/16572 10.15448/1980-6108.2014.2.16572 |
url |
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/16572 |
identifier_str_mv |
10.15448/1980-6108.2014.2.16572 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/16572/11509 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Editora da PUCRS - ediPUCRS |
publisher.none.fl_str_mv |
Editora da PUCRS - ediPUCRS |
dc.source.none.fl_str_mv |
Scientia Medica; Vol. 24 No. 2 (2014); 168-172 Scientia Medica; v. 24 n. 2 (2014); 168-172 1980-6108 1806-5562 10.15448/1980-6108.2014.2 reponame:Scientia Medica (Porto Alegre. Online) instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) instacron:PUC_RS |
instname_str |
Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) |
instacron_str |
PUC_RS |
institution |
PUC_RS |
reponame_str |
Scientia Medica (Porto Alegre. Online) |
collection |
Scientia Medica (Porto Alegre. Online) |
repository.name.fl_str_mv |
Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) |
repository.mail.fl_str_mv |
scientiamedica@pucrs.br || editora.periodicos@pucrs.br |
_version_ |
1809101750221668352 |