Wilson disease in children and adolescents.


Journal

Archives of disease in childhood
ISSN: 1468-2044
Titre abrégé: Arch Dis Child
Pays: England
ID NLM: 0372434

Informations de publication

Date de publication:
05 2020
Historique:
received: 03 11 2019
revised: 18 12 2019
accepted: 19 12 2019
pubmed: 25 1 2020
medline: 31 7 2020
entrez: 25 1 2020
Statut: ppublish

Résumé

Wilson disease (WD) is a rare, recessively inherited disorder of copper metabolism mainly affecting liver and brain. In childhood, it is known to have a predominant hepatic phenotype. It is likely that the low awareness for WD-associated neuropsychiatric signs and symptoms in this age group means that neurological Wilson's disease is underdiagnosed in children and young people. Practitioners should be alert for this complication in children with or without liver disease. Management of children with WD requires a dedicated multidisciplinary approach involving hepatologists, geneticists, neurologists and psychiatrists to ensure subtle neuropsychiatric symptoms are identified early and addressed appropriately. This review highlights recent advances in hepatic and neuropsychiatric symptoms of WD in childhood, specific diagnostic tools and pitfalls and summarises existing and potential future treatment options.

Identifiants

pubmed: 31974298
pii: archdischild-2018-315705
doi: 10.1136/archdischild-2018-315705
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

499-505

Informations de copyright

© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Meranthi Fernando (M)

Liver Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, West Midlands, UK.

Indra van Mourik (I)

Liver Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, West Midlands, UK indra.mourik@nhs.net.

Evangeline Wassmer (E)

Department of Neurology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, West Midlands, UK.

Deirdre Kelly (D)

Liver Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, West Midlands, UK.

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