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Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement

Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages (“Gaucher cells”) within multiple organs, most conspicuously affecting the liver, spleen, and bone marrow. As the most common glycolipi...

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Autores principales: Degnan, Andrew J., Ho-Fung, Victor M., Ahrens-Nicklas, Rebecca C., Barrera, Christian A., Serai, Suraj D., Wang, Dah-Jyuu, Ficicioglu, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616606/
https://www.ncbi.nlm.nih.gov/pubmed/31289964
http://dx.doi.org/10.1186/s13244-019-0743-5
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author Degnan, Andrew J.
Ho-Fung, Victor M.
Ahrens-Nicklas, Rebecca C.
Barrera, Christian A.
Serai, Suraj D.
Wang, Dah-Jyuu
Ficicioglu, Can
author_facet Degnan, Andrew J.
Ho-Fung, Victor M.
Ahrens-Nicklas, Rebecca C.
Barrera, Christian A.
Serai, Suraj D.
Wang, Dah-Jyuu
Ficicioglu, Can
author_sort Degnan, Andrew J.
collection PubMed
description Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages (“Gaucher cells”) within multiple organs, most conspicuously affecting the liver, spleen, and bone marrow. As the most common glycolipid metabolism disorder, it is important for radiologists encountering these patients to be familiar with advances in imaging of organ and bone marrow involvement and understand the role of imaging in clinical decision-making. The recent advent of commercially available, reliable, and reproducible quantitative MRI acquisitions to measure fat fractions prompts revisiting the role of quantitative assessment of bone marrow involvement. This manuscript reviews the diverse imaging manifestations of Gaucher disease and discusses more optimal quantitative approaches to ascertain solid organ and bone marrow involvement with an emphasis on future applications of other quantitative methods including elastography.
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spelling pubmed-66166062019-07-11 Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement Degnan, Andrew J. Ho-Fung, Victor M. Ahrens-Nicklas, Rebecca C. Barrera, Christian A. Serai, Suraj D. Wang, Dah-Jyuu Ficicioglu, Can Insights Imaging Critical Review Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages (“Gaucher cells”) within multiple organs, most conspicuously affecting the liver, spleen, and bone marrow. As the most common glycolipid metabolism disorder, it is important for radiologists encountering these patients to be familiar with advances in imaging of organ and bone marrow involvement and understand the role of imaging in clinical decision-making. The recent advent of commercially available, reliable, and reproducible quantitative MRI acquisitions to measure fat fractions prompts revisiting the role of quantitative assessment of bone marrow involvement. This manuscript reviews the diverse imaging manifestations of Gaucher disease and discusses more optimal quantitative approaches to ascertain solid organ and bone marrow involvement with an emphasis on future applications of other quantitative methods including elastography. Springer Berlin Heidelberg 2019-07-10 /pmc/articles/PMC6616606/ /pubmed/31289964 http://dx.doi.org/10.1186/s13244-019-0743-5 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Critical Review
Degnan, Andrew J.
Ho-Fung, Victor M.
Ahrens-Nicklas, Rebecca C.
Barrera, Christian A.
Serai, Suraj D.
Wang, Dah-Jyuu
Ficicioglu, Can
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
title Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
title_full Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
title_fullStr Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
title_full_unstemmed Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
title_short Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
title_sort imaging of non-neuronopathic gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
topic Critical Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616606/
https://www.ncbi.nlm.nih.gov/pubmed/31289964
http://dx.doi.org/10.1186/s13244-019-0743-5
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