Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review

Detalhes bibliográficos
Autor(a) principal: Morais, Mariana B
Data de Publicação: 2022
Outros Autores: Machado, Mariana
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/54399
Resumo: © 2022 The Authors. United European Gastroenterology Journal published by Wiley Periodicals LLC on behalf of United European Gastroenterology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
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spelling Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative reviewABCC2/MRP2Dubin-Johnson syndromeRotor syndromeSLCO1B1/OATP1B1SLCO1B3/OATP1B3Conjugated hyperbilirubinemia© 2022 The Authors. United European Gastroenterology Journal published by Wiley Periodicals LLC on behalf of United European Gastroenterology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.Bilirubin, a breakdown product of heme, is normally glucuronidated and excreted by the liver into bile. Failure of this system can lead to a buildup of conjugated bilirubin in the blood, resulting in jaundice. Hyperbilirubinemia is an important clinical sign that needs to be investigated under a stepwise evaluation. Inherited non-hemolytic conjugated hyperbilirubinemic conditions include Dubin-Johnson syndrome (caused by mutations affecting ABCC2 gene) and Rotor syndrome (caused by the simultaneous presence of mutations in SLCO1B1 and SLCO1B3 genes). Although classically viewed as benign conditions requiring no treatment, they lately gained an increased interest since recent studies suggested that mutations in the responsible genes leading to hyperbilirubinemia, as well as minor genetic variants, may result in an increased susceptibility to drug toxicity. This article provides a comprehensive review on the pathophysiology of Dubin-Johnson and Rotor syndromes, presenting the current knowledge concerning the molecular details and basis of these conditions.WileyRepositório da Universidade de LisboaMorais, Mariana BMachado, Mariana2022-09-09T10:44:43Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/54399engUnited European Gastroenterol J. 2022 Jul 202050-640610.1002/ueg2.122792050-6414info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:00:20Zoai:repositorio.ul.pt:10451/54399Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:04:59.267951Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review
title Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review
spellingShingle Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review
Morais, Mariana B
ABCC2/MRP2
Dubin-Johnson syndrome
Rotor syndrome
SLCO1B1/OATP1B1
SLCO1B3/OATP1B3
Conjugated hyperbilirubinemia
title_short Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review
title_full Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review
title_fullStr Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review
title_full_unstemmed Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review
title_sort Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia: a narrative review
author Morais, Mariana B
author_facet Morais, Mariana B
Machado, Mariana
author_role author
author2 Machado, Mariana
author2_role author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Morais, Mariana B
Machado, Mariana
dc.subject.por.fl_str_mv ABCC2/MRP2
Dubin-Johnson syndrome
Rotor syndrome
SLCO1B1/OATP1B1
SLCO1B3/OATP1B3
Conjugated hyperbilirubinemia
topic ABCC2/MRP2
Dubin-Johnson syndrome
Rotor syndrome
SLCO1B1/OATP1B1
SLCO1B3/OATP1B3
Conjugated hyperbilirubinemia
description © 2022 The Authors. United European Gastroenterology Journal published by Wiley Periodicals LLC on behalf of United European Gastroenterology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
publishDate 2022
dc.date.none.fl_str_mv 2022-09-09T10:44:43Z
2022
2022-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/54399
url http://hdl.handle.net/10451/54399
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv United European Gastroenterol J. 2022 Jul 20
2050-6406
10.1002/ueg2.12279
2050-6414
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 Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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