A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452018000400006 |
Resumo: | The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis. The case refers to a healthy 39-year-old Caucasian male who presented with abdominal pain and jaundice. His blood tests showed conjugated hyperbilirubinemia and elevated liver enzymes (total bilirubin 6.65 mg/dL, γ-glutamyltransferase 699 IU/L) and abdominal computed tomography revealed dilation of common bile duct and left intrahepatic ducts. Magnetic resonance cholangiopancreatography identified choledocholithiasis, retrieved by endoscopic retrograde cholangiopancreatography, after which there was a worsening of jaundice (total bilirubin 23 mg/dL), which persisted for several weeks, possibly due to ciprofloxacin toxicity. After an extensive workup including liver biopsy, the identification of two foci of hepatolithiasis on reevaluation abdominal ultrasound raised the hypothesis of LPAC syndrome and the patient was started on ursodeoxycholic acid, with remarkable improvement. Genetic testing identified the mutation c.1954A>G (p.Arg652Gly) in ABCB4 gene (homozygous) and c.1331T>C (p.Val444Ala) in ABCB11 gene (heterozygous). In conclusion, we describe the unique case of an adult male with choledocholithiasis, hepatolithiasis, and persistent conjugated hyperbilirubinemia after retrieval of stones, fulfilling the criteria for LPAC syndrome and with possible superimposed drug-induced liver injury, in whom ABCB4 and ABCB11 mutations were found, both of which had not been previously described in association with LPAC. |
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A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 MutationsLow-phospholipid-associated cholelithiasisMDR3BSEPDrug-induced liver injuryThe low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis. The case refers to a healthy 39-year-old Caucasian male who presented with abdominal pain and jaundice. His blood tests showed conjugated hyperbilirubinemia and elevated liver enzymes (total bilirubin 6.65 mg/dL, γ-glutamyltransferase 699 IU/L) and abdominal computed tomography revealed dilation of common bile duct and left intrahepatic ducts. Magnetic resonance cholangiopancreatography identified choledocholithiasis, retrieved by endoscopic retrograde cholangiopancreatography, after which there was a worsening of jaundice (total bilirubin 23 mg/dL), which persisted for several weeks, possibly due to ciprofloxacin toxicity. After an extensive workup including liver biopsy, the identification of two foci of hepatolithiasis on reevaluation abdominal ultrasound raised the hypothesis of LPAC syndrome and the patient was started on ursodeoxycholic acid, with remarkable improvement. Genetic testing identified the mutation c.1954A>G (p.Arg652Gly) in ABCB4 gene (homozygous) and c.1331T>C (p.Val444Ala) in ABCB11 gene (heterozygous). In conclusion, we describe the unique case of an adult male with choledocholithiasis, hepatolithiasis, and persistent conjugated hyperbilirubinemia after retrieval of stones, fulfilling the criteria for LPAC syndrome and with possible superimposed drug-induced liver injury, in whom ABCB4 and ABCB11 mutations were found, both of which had not been previously described in association with LPAC.Sociedade Portuguesa de Gastrenterologia2018-08-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452018000400006GE-Portuguese Journal of Gastroenterology v.25 n.4 2018reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452018000400006Cardoso,Mariana FerreiraBranco,Joana Carvalho eAnapaz,VeraRodrigues,Catarina GraçaCarvalho,RitaHorta,DavidMartins,AlexandraReis,Jorgeinfo:eu-repo/semantics/openAccess2024-02-06T17:33:51Zoai:scielo:S2341-45452018000400006Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:36:04.212185Repositório 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 |
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations |
title |
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations |
spellingShingle |
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations Cardoso,Mariana Ferreira Low-phospholipid-associated cholelithiasis MDR3 BSEP Drug-induced liver injury |
title_short |
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations |
title_full |
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations |
title_fullStr |
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations |
title_full_unstemmed |
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations |
title_sort |
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations |
author |
Cardoso,Mariana Ferreira |
author_facet |
Cardoso,Mariana Ferreira Branco,Joana Carvalho e Anapaz,Vera Rodrigues,Catarina Graça Carvalho,Rita Horta,David Martins,Alexandra Reis,Jorge |
author_role |
author |
author2 |
Branco,Joana Carvalho e Anapaz,Vera Rodrigues,Catarina Graça Carvalho,Rita Horta,David Martins,Alexandra Reis,Jorge |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Cardoso,Mariana Ferreira Branco,Joana Carvalho e Anapaz,Vera Rodrigues,Catarina Graça Carvalho,Rita Horta,David Martins,Alexandra Reis,Jorge |
dc.subject.por.fl_str_mv |
Low-phospholipid-associated cholelithiasis MDR3 BSEP Drug-induced liver injury |
topic |
Low-phospholipid-associated cholelithiasis MDR3 BSEP Drug-induced liver injury |
description |
The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis. The case refers to a healthy 39-year-old Caucasian male who presented with abdominal pain and jaundice. His blood tests showed conjugated hyperbilirubinemia and elevated liver enzymes (total bilirubin 6.65 mg/dL, γ-glutamyltransferase 699 IU/L) and abdominal computed tomography revealed dilation of common bile duct and left intrahepatic ducts. Magnetic resonance cholangiopancreatography identified choledocholithiasis, retrieved by endoscopic retrograde cholangiopancreatography, after which there was a worsening of jaundice (total bilirubin 23 mg/dL), which persisted for several weeks, possibly due to ciprofloxacin toxicity. After an extensive workup including liver biopsy, the identification of two foci of hepatolithiasis on reevaluation abdominal ultrasound raised the hypothesis of LPAC syndrome and the patient was started on ursodeoxycholic acid, with remarkable improvement. Genetic testing identified the mutation c.1954A>G (p.Arg652Gly) in ABCB4 gene (homozygous) and c.1331T>C (p.Val444Ala) in ABCB11 gene (heterozygous). In conclusion, we describe the unique case of an adult male with choledocholithiasis, hepatolithiasis, and persistent conjugated hyperbilirubinemia after retrieval of stones, fulfilling the criteria for LPAC syndrome and with possible superimposed drug-induced liver injury, in whom ABCB4 and ABCB11 mutations were found, both of which had not been previously described in association with LPAC. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-08-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452018000400006 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452018000400006 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452018000400006 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Gastrenterologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Gastrenterologia |
dc.source.none.fl_str_mv |
GE-Portuguese Journal of Gastroenterology v.25 n.4 2018 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 |
institution |
RCAAP |
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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1799137413018157056 |