WILSON'S DISEASE: A REVIEW OF TWO CLINICAL CASES AND LITERATURE REVIEW

• DOI: https://doi.org/10.22533/at.ed.1594682424079

• Palavras-chave: Wilson's disease; hepatolenticular degeneration; copper metabolism.

• Keywords: Wilson's disease; hepatolenticular degeneration; copper metabolism.

• Abstract:

  Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic disease of copper metabolism. Its basic pathophysiology is a mutation in the ATP7B gene, which results in a defective protein for the transport of this metal. As a result, excessive accumulation of copper occurs in the body, especially in the brain and liver, causing neurological, psychiatric, ophthalmic and hepatic symptoms. Thus, clinical presentations are varied and the diagnosis represents a challenge for health professionals, as it is not always obtained in a simple way, requiring a high level of suspicion and inclusion of Wilson's disease in the list of differential diagnoses in patients with presentations complex clinics. Although difficult, the diagnosis is extremely important, as at the same time, the institution of treatment prevents the onset of a degenerative and debilitating condition. In this context, the present work aims to report two clinical cases of patients with Wilson's disease, in addition to carrying out a narrative review of the literature on the topic.