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Revista Uruguaya de Medicina Interna

Print version ISSN 2393-6797On-line version ISSN 2393-6797

Abstract

MORATORIO, Ignacio; PONTET, Yéssica  and  HERNANDEZ, Nelia. Wilson's disease: liver presentation and literature review. Rev. Urug. Med. Int. [online]. 2019, vol.4, n.2, pp.32-37. ISSN 2393-6797.  http://dx.doi.org/10.26445/04.02.4.

Wilson's disease is a rare genetic disorder that can occur at any age and is characterized by copper deposition in the liver and brain. Liver involvement ranges from asymptomatic forms to fulminant hepatic failure or cirrhosis. Its early diagnosis has prognostic implications since the treatment can achieve a negative copper balance, allow symptomatic control and prevent the progression of the disease. We present the case of a 27-year-old man with abdominal pain, who was diagnosed with Wilson's disease from mild hypertransaminasemia. The findings that led to the diagnosis were an increased cupruria by induction with D-penicillamine and a quantification of copper in elevated dry liver tissue. With a stage of mild fibrosis, treatment with D-penicillamine was started with good tolerance and normalization of biochemical alterations.

Keywords : Wilson's disease; D-penicillamine.

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