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Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases

Alpha-1 antitrypsin deficiency is an autosomal recessive disease most commonly caused by misfolding of the Alpha-1-antitrypsin protein, which prevents its release from hepatocytes into the systemic circulation. This results in increased lifetime risk of liver and lung disease. Due to its variable pe...

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Autores principales: Lee, Jonathan, Yoshida, Eric M., Mattman, Andre, Marquez, Vladimir, Bukhari, Hussam, Farnell, David, Yang, Hui-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138925/
https://www.ncbi.nlm.nih.gov/pubmed/35782889
http://dx.doi.org/10.14744/hf.2020.2020.0013
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author Lee, Jonathan
Yoshida, Eric M.
Mattman, Andre
Marquez, Vladimir
Bukhari, Hussam
Farnell, David
Yang, Hui-Min
author_facet Lee, Jonathan
Yoshida, Eric M.
Mattman, Andre
Marquez, Vladimir
Bukhari, Hussam
Farnell, David
Yang, Hui-Min
author_sort Lee, Jonathan
collection PubMed
description Alpha-1 antitrypsin deficiency is an autosomal recessive disease most commonly caused by misfolding of the Alpha-1-antitrypsin protein, which prevents its release from hepatocytes into the systemic circulation. This results in increased lifetime risk of liver and lung disease. Due to its variable penetrance, presentation and natural history, patients with alpha-1 antitrypsin deficiency are often underdiagnosed. In this report, we present two cases of alpha-1 antitrypsin deficiency in deceased-donor liver transplant allografts diagnosed post-transplant. There is currently no known adverse outcome directly linked to alpha-1 antitrypsin deficiency in the immediate post-transplant follow-up period. Thus, these allografts should not be excluded from transplantation.
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spelling pubmed-91389252022-07-01 Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases Lee, Jonathan Yoshida, Eric M. Mattman, Andre Marquez, Vladimir Bukhari, Hussam Farnell, David Yang, Hui-Min Hepatol Forum Case Report - Alpha-1-antitrypsin deficiency in liver allografts Alpha-1 antitrypsin deficiency is an autosomal recessive disease most commonly caused by misfolding of the Alpha-1-antitrypsin protein, which prevents its release from hepatocytes into the systemic circulation. This results in increased lifetime risk of liver and lung disease. Due to its variable penetrance, presentation and natural history, patients with alpha-1 antitrypsin deficiency are often underdiagnosed. In this report, we present two cases of alpha-1 antitrypsin deficiency in deceased-donor liver transplant allografts diagnosed post-transplant. There is currently no known adverse outcome directly linked to alpha-1 antitrypsin deficiency in the immediate post-transplant follow-up period. Thus, these allografts should not be excluded from transplantation. Kare Publishing 2021-01-08 /pmc/articles/PMC9138925/ /pubmed/35782889 http://dx.doi.org/10.14744/hf.2020.2020.0013 Text en © Copyright 2021 by Hepatology Forum - Available online at www.hepatologyforum.org https://creativecommons.org/licenses/by-nc/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
spellingShingle Case Report - Alpha-1-antitrypsin deficiency in liver allografts
Lee, Jonathan
Yoshida, Eric M.
Mattman, Andre
Marquez, Vladimir
Bukhari, Hussam
Farnell, David
Yang, Hui-Min
Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases
title Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases
title_full Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases
title_fullStr Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases
title_full_unstemmed Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases
title_short Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases
title_sort incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: report of two cases
topic Case Report - Alpha-1-antitrypsin deficiency in liver allografts
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138925/
https://www.ncbi.nlm.nih.gov/pubmed/35782889
http://dx.doi.org/10.14744/hf.2020.2020.0013
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