Malattia di Wilson: Dieci motivi per (ri)parlarne ai pediatri

Translated title of the contribution: Wilson disease: Why talking about it

Raffaele Iorio, Giusy Ranucci, Daniela Liccardo, Maria Giovanna Puoti, Fabiola Di Dato

Research output: Contribution to journalArticle

Abstract

Wilson disease (WD) is an inherited autosomal recessive disorder of copper metabolism characterized by progressive copper accumulation in the liver and then in other organs, such as the nervous system, eyes and kidneys. In childhood, clinical presentation of WD is usually characterized by signs of liver disease, while the typical neurological signs are rarely observed. The hepatic clinical presentation ranges widely among different settings. In Italy, the majority of the paediatric patients with WD are recruited following the detection of isolated hypertransaminasemia. Early detection of WD is desirable in order to avoid the dramatic progression of the hepatic and neurologic diseases. Unfortunately, early diagnosis is a challenging task, especially in childhood, because the conventional criteria established for adults are not always appropriate for children. The currently available drugs are D-penicillamine and zinc, which act with different mechanisms. None of the available drugs is side-effect-free. In this article the main key-points of diagnosis and management of WD in paediatric patients are discussed.

Translated title of the contributionWilson disease: Why talking about it
Original languageItalian
Pages (from-to)501-507
Number of pages7
JournalMedico e Bambino
Volume31
Issue number8
Publication statusPublished - Oct 2012

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Iorio, R., Ranucci, G., Liccardo, D., Puoti, M. G., & Di Dato, F. (2012). Malattia di Wilson: Dieci motivi per (ri)parlarne ai pediatri. Medico e Bambino, 31(8), 501-507.