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Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report

BACKGROUND: Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the FECH gene. EPP combined with liver injury is even rarer. CASE SUMMARY: This paper reports a case of EPP whic...

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Autores principales: Liu, Hui-Min, Deng, Guo-Hong, Mao, Qing, Wang, Xiao-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385011/
https://www.ncbi.nlm.nih.gov/pubmed/30809087
http://dx.doi.org/10.3748/wjg.v25.i7.880
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author Liu, Hui-Min
Deng, Guo-Hong
Mao, Qing
Wang, Xiao-Hong
author_facet Liu, Hui-Min
Deng, Guo-Hong
Mao, Qing
Wang, Xiao-Hong
author_sort Liu, Hui-Min
collection PubMed
description BACKGROUND: Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the FECH gene. EPP combined with liver injury is even rarer. CASE SUMMARY: This paper reports a case of EPP which was admitted to the hospital with abnormal liver function and diagnosed by repeated questioning of medical history, screening of common causes of severe liver injury, and second generation sequencing of the whole exon genome. We also summarize the clinical characteristics of EPP with liver injury, and put forward some suggestions on EPP to provide a reference for the diagnosis of such rare disease. CONCLUSION: A new mutation locus (c.32_35dupCCCT) which may be related to the disease was found by detecting the FECH gene in the pedigree of this case.
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spelling pubmed-63850112019-02-26 Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report Liu, Hui-Min Deng, Guo-Hong Mao, Qing Wang, Xiao-Hong World J Gastroenterol Case Report BACKGROUND: Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the FECH gene. EPP combined with liver injury is even rarer. CASE SUMMARY: This paper reports a case of EPP which was admitted to the hospital with abnormal liver function and diagnosed by repeated questioning of medical history, screening of common causes of severe liver injury, and second generation sequencing of the whole exon genome. We also summarize the clinical characteristics of EPP with liver injury, and put forward some suggestions on EPP to provide a reference for the diagnosis of such rare disease. CONCLUSION: A new mutation locus (c.32_35dupCCCT) which may be related to the disease was found by detecting the FECH gene in the pedigree of this case. Baishideng Publishing Group Inc 2019-02-21 2019-02-21 /pmc/articles/PMC6385011/ /pubmed/30809087 http://dx.doi.org/10.3748/wjg.v25.i7.880 Text en ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial.
spellingShingle Case Report
Liu, Hui-Min
Deng, Guo-Hong
Mao, Qing
Wang, Xiao-Hong
Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
title Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
title_full Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
title_fullStr Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
title_full_unstemmed Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
title_short Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
title_sort diagnosis of erythropoietic protoporphyria with severe liver injury: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385011/
https://www.ncbi.nlm.nih.gov/pubmed/30809087
http://dx.doi.org/10.3748/wjg.v25.i7.880
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