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Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1

Benign recurrent intrahepatic cholestasis (BRIC) is a rare hereditary cholestatic liver disorder. Accurate diagnosis and timely interventions are important in determining outcomes. Besides clinical and pathologic diagnosis, genetic study of BRIC remains limited. Here, we report a young man enduring...

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Autores principales: Chen, Huayu, Wu, Dongbo, Jiang, Wei, Lei, Ting, Lu, Changli, Zhou, Taoyou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416249/
https://www.ncbi.nlm.nih.gov/pubmed/34485338
http://dx.doi.org/10.3389/fmed.2021.705489
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author Chen, Huayu
Wu, Dongbo
Jiang, Wei
Lei, Ting
Lu, Changli
Zhou, Taoyou
author_facet Chen, Huayu
Wu, Dongbo
Jiang, Wei
Lei, Ting
Lu, Changli
Zhou, Taoyou
author_sort Chen, Huayu
collection PubMed
description Benign recurrent intrahepatic cholestasis (BRIC) is a rare hereditary cholestatic liver disorder. Accurate diagnosis and timely interventions are important in determining outcomes. Besides clinical and pathologic diagnosis, genetic study of BRIC remains limited. Here, we report a young man enduring recurrent jaundice and severe pruritus for 15 years. The increased level of direct bilirubin was the main biochemical abnormality, and the work-up for common causes of jaundice were unremarkable. Liver biopsy showed extensive cholestasis of hepatocytes in zone 3. The novel homozygous variant including c.1817T > C and p.I606T was detected on his ATP8B1gene. The patient was finally diagnosed with BRIC-1. His symptoms were relieved, and liver function tests returned to normal after taking ursodeoxycholic acid. This case provides a different perspective to the methodology employed when dealing with cases of jaundice and helping diagnose rare diseases.
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spelling pubmed-84162492021-09-04 Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1 Chen, Huayu Wu, Dongbo Jiang, Wei Lei, Ting Lu, Changli Zhou, Taoyou Front Med (Lausanne) Medicine Benign recurrent intrahepatic cholestasis (BRIC) is a rare hereditary cholestatic liver disorder. Accurate diagnosis and timely interventions are important in determining outcomes. Besides clinical and pathologic diagnosis, genetic study of BRIC remains limited. Here, we report a young man enduring recurrent jaundice and severe pruritus for 15 years. The increased level of direct bilirubin was the main biochemical abnormality, and the work-up for common causes of jaundice were unremarkable. Liver biopsy showed extensive cholestasis of hepatocytes in zone 3. The novel homozygous variant including c.1817T > C and p.I606T was detected on his ATP8B1gene. The patient was finally diagnosed with BRIC-1. His symptoms were relieved, and liver function tests returned to normal after taking ursodeoxycholic acid. This case provides a different perspective to the methodology employed when dealing with cases of jaundice and helping diagnose rare diseases. Frontiers Media S.A. 2021-08-18 /pmc/articles/PMC8416249/ /pubmed/34485338 http://dx.doi.org/10.3389/fmed.2021.705489 Text en Copyright © 2021 Chen, Wu, Jiang, Lei, Lu and Zhou. 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 Medicine
Chen, Huayu
Wu, Dongbo
Jiang, Wei
Lei, Ting
Lu, Changli
Zhou, Taoyou
Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1
title Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1
title_full Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1
title_fullStr Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1
title_full_unstemmed Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1
title_short Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1
title_sort case report: a novel homozygous variant identified in a chinese patient with benign recurrent intrahepatic cholestasis-type 1
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416249/
https://www.ncbi.nlm.nih.gov/pubmed/34485338
http://dx.doi.org/10.3389/fmed.2021.705489
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