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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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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. |
format | Online Article Text |
id | pubmed-10099096 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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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