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Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases

We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysfer...

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Autores principales: Aasen, Tyler, Achdjian, Houry, Usta, Yousef, Nanda, Rakesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American College of Gastroenterology 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748204/
https://www.ncbi.nlm.nih.gov/pubmed/26958568
http://dx.doi.org/10.14309/crj.2016.22
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author Aasen, Tyler
Achdjian, Houry
Usta, Yousef
Nanda, Rakesh
author_facet Aasen, Tyler
Achdjian, Houry
Usta, Yousef
Nanda, Rakesh
author_sort Aasen, Tyler
collection PubMed
description We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysferlin-deficient muscular dystrophy. Persistent transaminase elevation despite negative liver work-up should prompt clinicians to consider extrahepatic sources of enzyme elevation. Promptly correlating aminotransferase elevation with musculoskeletal pathology may present an opportunity for clinicians to detect myopathies such as muscular dystrophy in their preclinical stages.
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spelling pubmed-47482042016-03-08 Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases Aasen, Tyler Achdjian, Houry Usta, Yousef Nanda, Rakesh ACG Case Rep J Case Report We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysferlin-deficient muscular dystrophy. Persistent transaminase elevation despite negative liver work-up should prompt clinicians to consider extrahepatic sources of enzyme elevation. Promptly correlating aminotransferase elevation with musculoskeletal pathology may present an opportunity for clinicians to detect myopathies such as muscular dystrophy in their preclinical stages. American College of Gastroenterology 2016-01-20 /pmc/articles/PMC4748204/ /pubmed/26958568 http://dx.doi.org/10.14309/crj.2016.22 Text en Copyright © Aasen et al. This is an open-access article. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Case Report
Aasen, Tyler
Achdjian, Houry
Usta, Yousef
Nanda, Rakesh
Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases
title Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases
title_full Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases
title_fullStr Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases
title_full_unstemmed Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases
title_short Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases
title_sort dysferlin-deficient muscular dystrophy identified through laboratory testing for elevated aminotransferases
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748204/
https://www.ncbi.nlm.nih.gov/pubmed/26958568
http://dx.doi.org/10.14309/crj.2016.22
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