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

Dubin-Johnson syndrome (DJS) is an often-missed diagnosis of neonatal cholestasis. We report two patients with DJS, who presented with neonatal cholestasis. The first patient underwent extensive investigations for infantile cholestasis with no definitive etiology reached; the diagnosis of DJS was mi...

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Autores principales: Kamal, Naglaa M., Saadah, Omar, Alghamdi, Hamdan, Algarni, Ali, El-Shabrawi, Mortada H. F., Sherief, Laila M., Abosabie, Salma A. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176751/
https://www.ncbi.nlm.nih.gov/pubmed/35692971
http://dx.doi.org/10.3389/fped.2022.855210
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author Kamal, Naglaa M.
Saadah, Omar
Alghamdi, Hamdan
Algarni, Ali
El-Shabrawi, Mortada H. F.
Sherief, Laila M.
Abosabie, Salma A. S.
author_facet Kamal, Naglaa M.
Saadah, Omar
Alghamdi, Hamdan
Algarni, Ali
El-Shabrawi, Mortada H. F.
Sherief, Laila M.
Abosabie, Salma A. S.
author_sort Kamal, Naglaa M.
collection PubMed
description Dubin-Johnson syndrome (DJS) is an often-missed diagnosis of neonatal cholestasis. We report two patients with DJS, who presented with neonatal cholestasis. The first patient underwent extensive investigations for infantile cholestasis with no definitive etiology reached; the diagnosis of DJS was missed until the age of 14 years old. The diagnosis was confirmed genetically with c.2273G > T, p.G758V mutation in exon 18 of the ABCC2 gene. The 2nd patient is a 7-day-old baby, the son of the 1st patient who gave birth to him at the age of 21 years old. He was diagnosed with DJS at the age of 2 weeks based on normal clinical and laboratory workup apart from direct hyperbilirubinemia. He had the same mutation as his mother in homozygous status. The husband was heterozygous for the same mutation. DJS is one of the often-missed differential diagnoses of neonatal cholestasis. It should be suspected in patients of infantile cholestasis, who have an, otherwise, normal physical examination, and laboratory investigations to avoid unnecessary lengthy, invasive, and expensive workups.
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spelling pubmed-91767512022-06-09 Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family Kamal, Naglaa M. Saadah, Omar Alghamdi, Hamdan Algarni, Ali El-Shabrawi, Mortada H. F. Sherief, Laila M. Abosabie, Salma A. S. Front Pediatr Pediatrics Dubin-Johnson syndrome (DJS) is an often-missed diagnosis of neonatal cholestasis. We report two patients with DJS, who presented with neonatal cholestasis. The first patient underwent extensive investigations for infantile cholestasis with no definitive etiology reached; the diagnosis of DJS was missed until the age of 14 years old. The diagnosis was confirmed genetically with c.2273G > T, p.G758V mutation in exon 18 of the ABCC2 gene. The 2nd patient is a 7-day-old baby, the son of the 1st patient who gave birth to him at the age of 21 years old. He was diagnosed with DJS at the age of 2 weeks based on normal clinical and laboratory workup apart from direct hyperbilirubinemia. He had the same mutation as his mother in homozygous status. The husband was heterozygous for the same mutation. DJS is one of the often-missed differential diagnoses of neonatal cholestasis. It should be suspected in patients of infantile cholestasis, who have an, otherwise, normal physical examination, and laboratory investigations to avoid unnecessary lengthy, invasive, and expensive workups. Frontiers Media S.A. 2022-05-25 /pmc/articles/PMC9176751/ /pubmed/35692971 http://dx.doi.org/10.3389/fped.2022.855210 Text en Copyright © 2022 Kamal, Saadah, Alghamdi, Algarni, El-Shabrawi, Sherief and Abosabie. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Kamal, Naglaa M.
Saadah, Omar
Alghamdi, Hamdan
Algarni, Ali
El-Shabrawi, Mortada H. F.
Sherief, Laila M.
Abosabie, Salma A. S.
Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family
title Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family
title_full Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family
title_fullStr Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family
title_full_unstemmed Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family
title_short Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family
title_sort case report: dubin-johnson syndrome presenting with infantile cholestasis: an overlooked diagnosis in an extended family
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176751/
https://www.ncbi.nlm.nih.gov/pubmed/35692971
http://dx.doi.org/10.3389/fped.2022.855210
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