Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report
Abstract 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...
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| Format: | Article |
| Language: | English |
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BMC
2017-09-01
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| Series: | BMC Research Notes |
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| Online Access: | http://link.springer.com/article/10.1186/s13104-017-2811-6 |
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| author | Grace Angeline Malarnangai Kularatnam Dilanthi Warawitage Dinesha Maduri Vidanapathirana Subashini Jayasena Eresha Jasinge Nalika de Silva Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi Pujitha Wickramasinghe Manjit Singh Devgun Veronique Barbu Olivier Lascols |
| author_facet | Grace Angeline Malarnangai Kularatnam Dilanthi Warawitage Dinesha Maduri Vidanapathirana Subashini Jayasena Eresha Jasinge Nalika de Silva Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi Pujitha Wickramasinghe Manjit Singh Devgun Veronique Barbu Olivier Lascols |
| author_sort | Grace Angeline Malarnangai Kularatnam |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-21T15:48:18Z |
| format | Article |
| id | doaj.art-1484f087f387482b9358a96def3a9b43 |
| institution | Directory Open Access Journal |
| issn | 1756-0500 |
| language | English |
| last_indexed | 2024-12-21T15:48:18Z |
| publishDate | 2017-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Research Notes |
| spelling | doaj.art-1484f087f387482b9358a96def3a9b432022-12-21T18:58:17ZengBMCBMC Research Notes1756-05002017-09-011011510.1186/s13104-017-2811-6Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case reportGrace Angeline Malarnangai Kularatnam0Dilanthi Warawitage1Dinesha Maduri Vidanapathirana2Subashini Jayasena3Eresha Jasinge4Nalika de Silva5Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi6Pujitha Wickramasinghe7Manjit Singh Devgun8Veronique Barbu9Olivier Lascols10Department of Chemical Pathology, Lady Ridgeway Hospital for ChildrenDepartment of Chemical Pathology, Lady Ridgeway Hospital for ChildrenDepartment of Chemical Pathology, Lady Ridgeway Hospital for ChildrenDepartment of Chemical Pathology, Lady Ridgeway Hospital for ChildrenDepartment of Chemical Pathology, Lady Ridgeway Hospital for ChildrenLady Ridgeway Hospital for ChildrenLady Ridgeway Hospital for ChildrenDepartment of Paediatrics, Faculty of Medicine, University of ColomboClinical Laboratories, Department of Biochemistry, Wishaw General HospitalLaboratoire Commun de Biologie et de Génétique Moléculaires, Hôpital Saint-AntoineLaboratoire Commun de Biologie et de Génétique Moléculaires, Hôpital Saint-AntoineAbstract 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.http://link.springer.com/article/10.1186/s13104-017-2811-6Dubin–Johnson syndromeIntrahepatic cholestasis of pregnancyCase reportConjugated hyperbilirubinemiaCoproporphyrin isomersLiver pigmentation |
| spellingShingle | Grace Angeline Malarnangai Kularatnam Dilanthi Warawitage Dinesha Maduri Vidanapathirana Subashini Jayasena Eresha Jasinge Nalika de Silva Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi Pujitha Wickramasinghe Manjit Singh Devgun Veronique Barbu Olivier Lascols Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report BMC Research Notes Dubin–Johnson syndrome Intrahepatic cholestasis of pregnancy Case report Conjugated hyperbilirubinemia Coproporphyrin isomers Liver pigmentation |
| 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 | Dubin–Johnson syndrome Intrahepatic cholestasis of pregnancy Case report Conjugated hyperbilirubinemia Coproporphyrin isomers Liver pigmentation |
| url | http://link.springer.com/article/10.1186/s13104-017-2811-6 |
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