Wilson disease: why talking about it

Key words: Wilson disease, Aminotransferases, Ceruloplasmin, Cupruria, ATP7B gene

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.