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Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4) mutation: a case report

BACKGROUND: Pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension (PAH) share an overlapping disease phenotype. Hence it is necessary to distinguish them. CASE PRESENTATION: Our 14-year-old female patient admitted with progressive shortness of breath, dizziness, and fatigue eve...

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Autores principales: Zeng, Xiaofang, Chen, Fan, Rathinasabapathy, Anandharajan, Li, Tangzhiming, Adnan Ali Mohammed Mohammed, Agila, Yu, Zaixin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336641/
https://www.ncbi.nlm.nih.gov/pubmed/32631303
http://dx.doi.org/10.1186/s12890-020-01186-8
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author Zeng, Xiaofang
Chen, Fan
Rathinasabapathy, Anandharajan
Li, Tangzhiming
Adnan Ali Mohammed Mohammed, Agila
Yu, Zaixin
author_facet Zeng, Xiaofang
Chen, Fan
Rathinasabapathy, Anandharajan
Li, Tangzhiming
Adnan Ali Mohammed Mohammed, Agila
Yu, Zaixin
author_sort Zeng, Xiaofang
collection PubMed
description BACKGROUND: Pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension (PAH) share an overlapping disease phenotype. Hence it is necessary to distinguish them. CASE PRESENTATION: Our 14-year-old female patient admitted with progressive shortness of breath, dizziness, and fatigue even after minimal physical activity was clinically suspected for PAH, based on her previous history. Her chest computed tomography artery reported the presence of PVOD triad features - subpleural thickened septal lines, ground-glass nodules/opacities and mediastinal lymphadenopathy. Because of her weak physical stature, a lung biopsy was not performed; however, the genetic testing identified a novel heterozygous EIF2AK4 mutation at c.4833_4836dup (p.Q1613Kfs*10) - the dominant susceptible factor driving PVOD. Combination of genetic testing and computed tomography artery facilitated us to distinguish PVOD from PAH. Her disease symptoms advanced aggressively so that she died even before the lung transplantation, which was less than 6 months from the onset of disease symptoms. CONCLUSION: This case report highlights that novel EIF2AK4 mutation at [c.4833_4836dup (p.Q1613Kfs*10)] would predict an aggressive phenotype of PVOD. Hence, we conclude that a genetic test identifying EIF2AK4 mutation would serve as a tool for the early diagnosis of PVOD, circumventing lung biopsy.
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spelling pubmed-73366412020-07-08 Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4) mutation: a case report Zeng, Xiaofang Chen, Fan Rathinasabapathy, Anandharajan Li, Tangzhiming Adnan Ali Mohammed Mohammed, Agila Yu, Zaixin BMC Pulm Med Case Report BACKGROUND: Pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension (PAH) share an overlapping disease phenotype. Hence it is necessary to distinguish them. CASE PRESENTATION: Our 14-year-old female patient admitted with progressive shortness of breath, dizziness, and fatigue even after minimal physical activity was clinically suspected for PAH, based on her previous history. Her chest computed tomography artery reported the presence of PVOD triad features - subpleural thickened septal lines, ground-glass nodules/opacities and mediastinal lymphadenopathy. Because of her weak physical stature, a lung biopsy was not performed; however, the genetic testing identified a novel heterozygous EIF2AK4 mutation at c.4833_4836dup (p.Q1613Kfs*10) - the dominant susceptible factor driving PVOD. Combination of genetic testing and computed tomography artery facilitated us to distinguish PVOD from PAH. Her disease symptoms advanced aggressively so that she died even before the lung transplantation, which was less than 6 months from the onset of disease symptoms. CONCLUSION: This case report highlights that novel EIF2AK4 mutation at [c.4833_4836dup (p.Q1613Kfs*10)] would predict an aggressive phenotype of PVOD. Hence, we conclude that a genetic test identifying EIF2AK4 mutation would serve as a tool for the early diagnosis of PVOD, circumventing lung biopsy. BioMed Central 2020-07-06 /pmc/articles/PMC7336641/ /pubmed/32631303 http://dx.doi.org/10.1186/s12890-020-01186-8 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Zeng, Xiaofang
Chen, Fan
Rathinasabapathy, Anandharajan
Li, Tangzhiming
Adnan Ali Mohammed Mohammed, Agila
Yu, Zaixin
Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4) mutation: a case report
title Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4) mutation: a case report
title_full Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4) mutation: a case report
title_fullStr Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4) mutation: a case report
title_full_unstemmed Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4) mutation: a case report
title_short Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4) mutation: a case report
title_sort rapid disease progress in a pvod patient carrying a novel eif(2)ak(4) mutation: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336641/
https://www.ncbi.nlm.nih.gov/pubmed/32631303
http://dx.doi.org/10.1186/s12890-020-01186-8
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