Rotor syndrome presenting as Dubin-Johnson syndrome

Detalhes bibliográficos
Autor(a) principal: Morais, Mariana B
Data de Publicação: 2022
Outros Autores: Couvert, Philippe, Jéru, Isabelle, 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/10451/63087
Resumo: © 2022 The Author(s). Published by S. Karger AG, Basel. This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
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spelling Rotor syndrome presenting as Dubin-Johnson syndromeABCC2/MRP2Conjugated hyperbilirubinemiaDubin-Johnson syndromeRotor syndromeSLCO1B3/OATP1B© 2022 The Author(s). Published by S. Karger AG, Basel. This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.A 42-year-old man with no relevant past medical history presented with intermittent mild icterus and no signs of chronic liver disease. Laboratory tests were notable for hyperbilirubinemia (total 7.97 mg/dL, direct 5.37 mg/dL), bilirubinuria, no signs of hemolysis, normal liver tests and lipids profile. Abdominal ultrasound was unremarkable. A panel of chronic liver diseases was negative except for increased serum (147.4 μg/dL) and urinary (179 μg/24 h) copper, with normal ceruloplasmin. No other Leipzig criteria for Wilson's disease were found, including a negative test for ATP7B gene mutations (by exome sequencing). Total urinary coproporphyrin was normal with predominance of isomer I (86% of total urinary coproporphyrin output). Clinical and laboratorial profile was compatible with Dubin-Johnson syndrome; however, exome sequencing and search for deletions in the ABBC2 gene (encoding MRP2) only found a heterozygous potentially pathogenic variant (c.1483A>G - p.Lys495Glu). Additional extended molecular analysis of genes implicated in bilirubin metabolism found a homozygous deletion of a region encompassing exons 4-16 of SLCO1B3 gene (encoding OATP1B3) and all SLCO1B1 exons (encoding OATP1B1), thereby establishing Rotor syndrome diagnosis. Rotor and Dubin-Johnson syndromes are rare autosomal recessive liver diseases characterized by chronic conjugated hyperbilirubinemia, caused by the absence of the hepatic function OATP1B1/B3 (leading to impaired hepatic bilirubin reuptake and storage) and MRP2 transporters (leading to impaired hepatic bilirubin excretion), respectively. We report a case of compound hereditary hyperbilirubinemia with a misleading presentation with special focus on its diagnosis, particularly the advantage of extensive unbiased genetic testing by dedicated laboratories. With this case, we aim to highlight the necessity of establishing a diagnosis, reassuring the patient, and avoiding unnecessary invasive and costly diagnostic procedures.KargerRepositório da Universidade de LisboaMorais, Mariana BCouvert, PhilippeJéru, IsabelleMachado, Mariana2024-03-01T14:47:05Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/63087engCase Rep Gastroenterol. 2022 Aug 16;16(2):452-45510.1159/0005255171662-0631info: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:RCAAP2024-03-04T01:21:20Zoai:repositorio.ul.pt:10451/63087Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:12:35.364380Repositório 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 Rotor syndrome presenting as Dubin-Johnson syndrome
title Rotor syndrome presenting as Dubin-Johnson syndrome
spellingShingle Rotor syndrome presenting as Dubin-Johnson syndrome
Morais, Mariana B
ABCC2/MRP2
Conjugated hyperbilirubinemia
Dubin-Johnson syndrome
Rotor syndrome
SLCO1B3/OATP1B
title_short Rotor syndrome presenting as Dubin-Johnson syndrome
title_full Rotor syndrome presenting as Dubin-Johnson syndrome
title_fullStr Rotor syndrome presenting as Dubin-Johnson syndrome
title_full_unstemmed Rotor syndrome presenting as Dubin-Johnson syndrome
title_sort Rotor syndrome presenting as Dubin-Johnson syndrome
author Morais, Mariana B
author_facet Morais, Mariana B
Couvert, Philippe
Jéru, Isabelle
Machado, Mariana
author_role author
author2 Couvert, Philippe
Jéru, Isabelle
Machado, Mariana
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Morais, Mariana B
Couvert, Philippe
Jéru, Isabelle
Machado, Mariana
dc.subject.por.fl_str_mv ABCC2/MRP2
Conjugated hyperbilirubinemia
Dubin-Johnson syndrome
Rotor syndrome
SLCO1B3/OATP1B
topic ABCC2/MRP2
Conjugated hyperbilirubinemia
Dubin-Johnson syndrome
Rotor syndrome
SLCO1B3/OATP1B
description © 2022 The Author(s). Published by S. Karger AG, Basel. This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
publishDate 2022
dc.date.none.fl_str_mv 2022
2022-01-01T00:00:00Z
2024-03-01T14:47:05Z
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/10451/63087
url http://hdl.handle.net/10451/63087
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Case Rep Gastroenterol. 2022 Aug 16;16(2):452-455
10.1159/000525517
1662-0631
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 Karger
publisher.none.fl_str_mv Karger
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
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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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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