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Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

BACKGROUND: Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin–Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the...

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Autores principales: Kularatnam, Grace Angeline Malarnangai, Dilanthi, Hewa Warawitage, Vidanapathirana, Dinesha Maduri, Jayasena, Subashini, Jasinge, Eresha, Silva, Ginige Nalika Nirmalenede, Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva, Wickramasinghe, Pujitha, Devgun, Manjit Singh, Barbu, Veronique, Lascols, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604299/
https://www.ncbi.nlm.nih.gov/pubmed/28923092
http://dx.doi.org/10.1186/s13104-017-2811-6
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author Kularatnam, Grace Angeline Malarnangai
Dilanthi, Hewa Warawitage
Vidanapathirana, Dinesha Maduri
Jayasena, Subashini
Jasinge, Eresha
Silva, Ginige Nalika Nirmalenede
Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva
Wickramasinghe, Pujitha
Devgun, Manjit Singh
Barbu, Veronique
Lascols, Olivier
author_facet Kularatnam, Grace Angeline Malarnangai
Dilanthi, Hewa Warawitage
Vidanapathirana, Dinesha Maduri
Jayasena, Subashini
Jasinge, Eresha
Silva, Ginige Nalika Nirmalenede
Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva
Wickramasinghe, Pujitha
Devgun, Manjit Singh
Barbu, Veronique
Lascols, Olivier
author_sort Kularatnam, Grace Angeline Malarnangai
collection PubMed
description BACKGROUND: Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin–Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids. CASE PRESENTATION: A Sri Lankan girl presented with recurrent episodes of jaundice. She had conjugated hyperbilirubinaemia with diffuse, coarse brown pigments in the hepatocytes. Urine coproporphyrin examination suggested Dubin–Johnson syndrome. Genetic studies confirmed missense homozygous variant p.Trp709Arg in the ATP-binding cassette sub-family C member 2 gene ABCC2 that encodes the Multidrug resistance-associated protein 2 that causes Dubin–Johnson syndrome. The gene study of the mother revealed the same missense variant in ABCC2/MRP2 but with a heterozygous status, and in addition a homozygous missense variant p.Val444Ala in the ATP-binding cassette, sub-family B member 11 gene ABCB11 that encodes the bile salt export pump. CONCLUSION: Dubin–Johnson syndrome should be considered when the common causes for conjugated hyperbilirubinaemia have been excluded, and patient has an increased percentage of direct bilirubin relative to total bilirubin concentration. Its early diagnosis prevents repeated hospital admissions and investigations. Knowledge of a well known homozygous variant in ABCB11 gene could help in the management of pregnancy.
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spelling pubmed-56042992017-09-21 Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report Kularatnam, Grace Angeline Malarnangai Dilanthi, Hewa Warawitage Vidanapathirana, Dinesha Maduri Jayasena, Subashini Jasinge, Eresha Silva, Ginige Nalika Nirmalenede Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva Wickramasinghe, Pujitha Devgun, Manjit Singh Barbu, Veronique Lascols, Olivier BMC Res Notes Case Report BACKGROUND: Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin–Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids. CASE PRESENTATION: A Sri Lankan girl presented with recurrent episodes of jaundice. She had conjugated hyperbilirubinaemia with diffuse, coarse brown pigments in the hepatocytes. Urine coproporphyrin examination suggested Dubin–Johnson syndrome. Genetic studies confirmed missense homozygous variant p.Trp709Arg in the ATP-binding cassette sub-family C member 2 gene ABCC2 that encodes the Multidrug resistance-associated protein 2 that causes Dubin–Johnson syndrome. The gene study of the mother revealed the same missense variant in ABCC2/MRP2 but with a heterozygous status, and in addition a homozygous missense variant p.Val444Ala in the ATP-binding cassette, sub-family B member 11 gene ABCB11 that encodes the bile salt export pump. CONCLUSION: Dubin–Johnson syndrome should be considered when the common causes for conjugated hyperbilirubinaemia have been excluded, and patient has an increased percentage of direct bilirubin relative to total bilirubin concentration. Its early diagnosis prevents repeated hospital admissions and investigations. Knowledge of a well known homozygous variant in ABCB11 gene could help in the management of pregnancy. BioMed Central 2017-09-18 /pmc/articles/PMC5604299/ /pubmed/28923092 http://dx.doi.org/10.1186/s13104-017-2811-6 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Kularatnam, Grace Angeline Malarnangai
Dilanthi, Hewa Warawitage
Vidanapathirana, Dinesha Maduri
Jayasena, Subashini
Jasinge, Eresha
Silva, Ginige Nalika Nirmalenede
Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva
Wickramasinghe, Pujitha
Devgun, Manjit Singh
Barbu, Veronique
Lascols, Olivier
Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report
title Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report
title_full Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report
title_fullStr Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report
title_full_unstemmed Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report
title_short Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report
title_sort dubin–johnson syndrome and intrahepatic cholestasis of pregnancy in a sri lankan family: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604299/
https://www.ncbi.nlm.nih.gov/pubmed/28923092
http://dx.doi.org/10.1186/s13104-017-2811-6
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