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

Content Provider	Springer Nature : BioMed Central
Author	Kularatnam, Grace Angeline Malarnangai Warawitage, Dilanthi Vidanapathirana, Dinesha Maduri Jayasena, Subashini Jasinge, Eresha de Silva, Nalika Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva Wickramasinghe, Pujitha Devgun, Manjit Singh Barbu, Veronique Lascols, Olivier
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.
Related Links	https://bmcresnotes.biomedcentral.com/counter/pdf/10.1186/s13104-017-2811-6.pdf
Ending Page	5
Page Count	5
Starting Page	1
File Format	HTM / HTML
ISSN	17560500
DOI	10.1186/s13104-017-2811-6
Journal	BMC Research Notes
Issue Number	1
Volume Number	10
Language	English
Publisher	BioMed Central
Publisher Date	2017-09-18
Access Restriction	Open
Subject Keyword	Biomedicine Medicine Public Health Life Sciences Dubin–Johnson syndrome Intrahepatic cholestasis of pregnancy Case report Conjugated hyperbilirubinemia Coproporphyrin isomers Liver pigmentation Bile acids ABCC2 ABCB11 Medicine/Public Health
Content Type	Text
Resource Type	Case study
Subject	Biochemistry, Genetics and Molecular Biology Medicine
Journal Impact Factor	1.6/2023

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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

Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family

Case Report: Three novel pathogenic ABCC2 mutations identified in two patients with Dubin–Johnson syndrome

Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin–Johnson Syndrome in a Large Case Series From the Arabs

Successful management of severe intrahepatic cholestasis of pregnancy: report of a first Japanese case

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

Application of metabolomics in intrahepatic cholestasis of pregnancy: a systematic review

Intrahepatic cholestasis of pregnancy: Case series of a rare disease in an African setting

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China

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

Similar Documents

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

Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family

Case Report: Three novel pathogenic ABCC2 mutations identified in two patients with Dubin–Johnson syndrome

Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin–Johnson Syndrome in a Large Case Series From the Arabs

Successful management of severe intrahepatic cholestasis of pregnancy: report of a first Japanese case

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

Application of metabolomics in intrahepatic cholestasis of pregnancy: a systematic review

Intrahepatic cholestasis of pregnancy: Case series of a rare disease in an African setting

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China

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