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Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review

Wilson disease (WD) is a liver disorder characterized by improper copper metabolism. Although non-invasive tools are currently used to support diagnosis and management, this is still an area of unmet need, as patients present with a wide range of symptoms. Our aim was to investigate the potential ut...

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Autores principales: Janowski, Kamil, Shumbayawonda, Elizabeth, Kelly, Matt, Ferreira, Carlos, Pronicki, Maciej, Grajkowska, Wieslawa, Naorniakowska, Magdalena, Pawliszak, Piotr, Chełstowska, Sylwia, Jurkiewicz, Elżbieta, Banerjee, Rajarshi, Socha, Piotr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139168/
https://www.ncbi.nlm.nih.gov/pubmed/35626790
http://dx.doi.org/10.3390/children9050613
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author Janowski, Kamil
Shumbayawonda, Elizabeth
Kelly, Matt
Ferreira, Carlos
Pronicki, Maciej
Grajkowska, Wieslawa
Naorniakowska, Magdalena
Pawliszak, Piotr
Chełstowska, Sylwia
Jurkiewicz, Elżbieta
Banerjee, Rajarshi
Socha, Piotr
author_facet Janowski, Kamil
Shumbayawonda, Elizabeth
Kelly, Matt
Ferreira, Carlos
Pronicki, Maciej
Grajkowska, Wieslawa
Naorniakowska, Magdalena
Pawliszak, Piotr
Chełstowska, Sylwia
Jurkiewicz, Elżbieta
Banerjee, Rajarshi
Socha, Piotr
author_sort Janowski, Kamil
collection PubMed
description Wilson disease (WD) is a liver disorder characterized by improper copper metabolism. Although non-invasive tools are currently used to support diagnosis and management, this is still an area of unmet need, as patients present with a wide range of symptoms. Our aim was to investigate the potential utility of multiparametric magnetic resonance imaging (mpMRI) and quantitative magnetic resonance cholangiopancreatography (MRCP+) to support patient management. MRI examinations of 7 children and young adults aged 8–16 years (six at diagnosis) were performed alongside a standard of care clinical and histological examination. Images were quantitatively analyzed to derive metrics of liver (corrected T1 (cT1; fibro-inflammation), MR liver fat (proton density fat fraction; PDFF)), and biliary health (MRCP+). MRI–PDFF provided a more dynamic characterization of fat compared with that provided by ultrasound. Those with elevated histological scores of fibrosis, inflammation, and steatosis had elevated mpMRI values. MRCP+ managed to identify dilatations in the biliary tree which were not observed during the standard of care examination. mpMRI and MRCP+ metrics show early promise as markers to assess both liver and biliary health in Wilson disease. Investigations to understand and explore the utility of these markers are warranted and should be performed.
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spelling pubmed-91391682022-05-28 Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review Janowski, Kamil Shumbayawonda, Elizabeth Kelly, Matt Ferreira, Carlos Pronicki, Maciej Grajkowska, Wieslawa Naorniakowska, Magdalena Pawliszak, Piotr Chełstowska, Sylwia Jurkiewicz, Elżbieta Banerjee, Rajarshi Socha, Piotr Children (Basel) Case Report Wilson disease (WD) is a liver disorder characterized by improper copper metabolism. Although non-invasive tools are currently used to support diagnosis and management, this is still an area of unmet need, as patients present with a wide range of symptoms. Our aim was to investigate the potential utility of multiparametric magnetic resonance imaging (mpMRI) and quantitative magnetic resonance cholangiopancreatography (MRCP+) to support patient management. MRI examinations of 7 children and young adults aged 8–16 years (six at diagnosis) were performed alongside a standard of care clinical and histological examination. Images were quantitatively analyzed to derive metrics of liver (corrected T1 (cT1; fibro-inflammation), MR liver fat (proton density fat fraction; PDFF)), and biliary health (MRCP+). MRI–PDFF provided a more dynamic characterization of fat compared with that provided by ultrasound. Those with elevated histological scores of fibrosis, inflammation, and steatosis had elevated mpMRI values. MRCP+ managed to identify dilatations in the biliary tree which were not observed during the standard of care examination. mpMRI and MRCP+ metrics show early promise as markers to assess both liver and biliary health in Wilson disease. Investigations to understand and explore the utility of these markers are warranted and should be performed. MDPI 2022-04-25 /pmc/articles/PMC9139168/ /pubmed/35626790 http://dx.doi.org/10.3390/children9050613 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Janowski, Kamil
Shumbayawonda, Elizabeth
Kelly, Matt
Ferreira, Carlos
Pronicki, Maciej
Grajkowska, Wieslawa
Naorniakowska, Magdalena
Pawliszak, Piotr
Chełstowska, Sylwia
Jurkiewicz, Elżbieta
Banerjee, Rajarshi
Socha, Piotr
Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review
title Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review
title_full Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review
title_fullStr Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review
title_full_unstemmed Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review
title_short Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review
title_sort quantitative mr in paediatric patients with wilson disease: a case series review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139168/
https://www.ncbi.nlm.nih.gov/pubmed/35626790
http://dx.doi.org/10.3390/children9050613
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