Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy

Nonalcoholic fatty liver disease (NAFLD) is the most prevalent liver disease worldwide, with potential causes stemming from obesity, metabolic syndrome, genetic disorders, and drug toxicity. We report a 42-year-old woman with lipodystrophy and NAFLD due to a pathogenic variant in the LMNA (D300N) ge...

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Autores principales: Mahdi, Layth, Kahn, Allon, Dhamija, Radhika, Vargas, Hugo E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7224721/
https://www.ncbi.nlm.nih.gov/pubmed/32548202
http://dx.doi.org/10.14309/crj.0000000000000375
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author Mahdi, Layth
Kahn, Allon
Dhamija, Radhika
Vargas, Hugo E.
author_facet Mahdi, Layth
Kahn, Allon
Dhamija, Radhika
Vargas, Hugo E.
author_sort Mahdi, Layth
collection PubMed
description Nonalcoholic fatty liver disease (NAFLD) is the most prevalent liver disease worldwide, with potential causes stemming from obesity, metabolic syndrome, genetic disorders, and drug toxicity. We report a 42-year-old woman with lipodystrophy and NAFLD due to a pathogenic variant in the LMNA (D300N) gene. This case report attempts to encourage clinicians to consider genetic diseases, specifically lipodystrophies, when working up uncommon causes of NAFLD.
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spelling pubmed-72247212020-06-15 Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy Mahdi, Layth Kahn, Allon Dhamija, Radhika Vargas, Hugo E. ACG Case Rep J Case Report Nonalcoholic fatty liver disease (NAFLD) is the most prevalent liver disease worldwide, with potential causes stemming from obesity, metabolic syndrome, genetic disorders, and drug toxicity. We report a 42-year-old woman with lipodystrophy and NAFLD due to a pathogenic variant in the LMNA (D300N) gene. This case report attempts to encourage clinicians to consider genetic diseases, specifically lipodystrophies, when working up uncommon causes of NAFLD. Wolters Kluwer 2020-04-07 /pmc/articles/PMC7224721/ /pubmed/32548202 http://dx.doi.org/10.14309/crj.0000000000000375 Text en © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Mahdi, Layth
Kahn, Allon
Dhamija, Radhika
Vargas, Hugo E.
Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
title Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
title_full Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
title_fullStr Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
title_full_unstemmed Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
title_short Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
title_sort hepatic steatosis resulting from lmna-associated familial lipodystrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7224721/
https://www.ncbi.nlm.nih.gov/pubmed/32548202
http://dx.doi.org/10.14309/crj.0000000000000375
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