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Dubin-Johnson Syndrome: A Case Report

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive genetic disease caused by mutations in the bilirubin transporter MRP2. It is characterized by recurrent episodes of jaundice and conjugated hyperbilirubinemia. Numerous instances of hyperbilirubinemia disorders resembling Dubin-Johnson syndr...

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Autores principales: Siddiqui, Abdul Hannan, Alsabe, Muhammad R, Tehseen, Zuha, Hatamleh, Modather I, Taslim, Sanzida, Abdelrahman, Ameer, Saleem, Faraz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099096/
https://www.ncbi.nlm.nih.gov/pubmed/37065356
http://dx.doi.org/10.7759/cureus.36115
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author Siddiqui, Abdul Hannan
Alsabe, Muhammad R
Tehseen, Zuha
Hatamleh, Modather I
Taslim, Sanzida
Abdelrahman, Ameer
Saleem, Faraz
author_facet Siddiqui, Abdul Hannan
Alsabe, Muhammad R
Tehseen, Zuha
Hatamleh, Modather I
Taslim, Sanzida
Abdelrahman, Ameer
Saleem, Faraz
author_sort Siddiqui, Abdul Hannan
collection PubMed
description Dubin-Johnson syndrome (DJS) is a rare autosomal recessive genetic disease caused by mutations in the bilirubin transporter MRP2. It is characterized by recurrent episodes of jaundice and conjugated hyperbilirubinemia. Numerous instances of hyperbilirubinemia disorders resembling Dubin-Johnson syndrome have been documented, but they differ in the clinical presentation, amount of conjugated bilirubin present, and their reaction to therapy. Most people with this syndrome do not have any symptoms, so their cases are often misdiagnosed and not properly taken care of. Here, we present a case of a teenage male patient who complained of recurring jaundice and abdominal pain. Further examination and testing revealed that the patient had been jaundiced since birth and had a family history of the condition. Conservative management was implemented, and follow-up demonstrated a positive prognosis. This case is a rare example of Dubin-Johnson syndrome, although patients with the condition generally have a normal life expectancy and only require conservative management.
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spelling pubmed-100990962023-04-14 Dubin-Johnson Syndrome: A Case Report Siddiqui, Abdul Hannan Alsabe, Muhammad R Tehseen, Zuha Hatamleh, Modather I Taslim, Sanzida Abdelrahman, Ameer Saleem, Faraz Cureus Internal Medicine Dubin-Johnson syndrome (DJS) is a rare autosomal recessive genetic disease caused by mutations in the bilirubin transporter MRP2. It is characterized by recurrent episodes of jaundice and conjugated hyperbilirubinemia. Numerous instances of hyperbilirubinemia disorders resembling Dubin-Johnson syndrome have been documented, but they differ in the clinical presentation, amount of conjugated bilirubin present, and their reaction to therapy. Most people with this syndrome do not have any symptoms, so their cases are often misdiagnosed and not properly taken care of. Here, we present a case of a teenage male patient who complained of recurring jaundice and abdominal pain. Further examination and testing revealed that the patient had been jaundiced since birth and had a family history of the condition. Conservative management was implemented, and follow-up demonstrated a positive prognosis. This case is a rare example of Dubin-Johnson syndrome, although patients with the condition generally have a normal life expectancy and only require conservative management. Cureus 2023-03-14 /pmc/articles/PMC10099096/ /pubmed/37065356 http://dx.doi.org/10.7759/cureus.36115 Text en Copyright © 2023, Siddiqui et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Siddiqui, Abdul Hannan
Alsabe, Muhammad R
Tehseen, Zuha
Hatamleh, Modather I
Taslim, Sanzida
Abdelrahman, Ameer
Saleem, Faraz
Dubin-Johnson Syndrome: A Case Report
title Dubin-Johnson Syndrome: A Case Report
title_full Dubin-Johnson Syndrome: A Case Report
title_fullStr Dubin-Johnson Syndrome: A Case Report
title_full_unstemmed Dubin-Johnson Syndrome: A Case Report
title_short Dubin-Johnson Syndrome: A Case Report
title_sort dubin-johnson syndrome: a case report
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099096/
https://www.ncbi.nlm.nih.gov/pubmed/37065356
http://dx.doi.org/10.7759/cureus.36115
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