Wilson’s Disease: A Family History
Doença de Wilson: A História Familiar
DOI:
https://doi.org/10.24950/rspmi.2491Palavras-chave:
Copper/metabolism, Hepatolenticular Degeneration/ diagnosis, Hepatolenticular Degeneration/therapyResumo
Wilson's disease (WD) is a rare monogenic, autosomal recessive disorder of copper accumulation. Clinical features include liver disease, hemolytic anemia, neuropsychiatric disorders, and cooper´s deposits in the cornea - Kayser-Fleischer rings, a characteristic feature of WD. Lifelong treatment is required to prevent disease progression, highlighting the importance of accurate diagnosis.
We report the cases of two young siblings with WD with liver disease and Kayser-Fleischer rings - both were asymptomatic, and the family history was positive for liver disease of unknown etiology. The eldest brother had elevated aminotransferases and gamma-glutamyltransferase - transient elastography fibrosis staging was F4, abdominal magnetic resonance imaging (MRI) showed hepatic steatosis, ceruloplasmin was undetectable with markedly elevated 24 hours urinary copper.
The diagnosis of WD was confirmed by Kayser-Fleischer rings. The younger sibling also presented with elevated ALT and GGT, extremely low ceruloplasmin, high 24 hours urinary copper and
Kayser-Fleischer rings. Both patients were started on chelation and are being actively followed.
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Referências
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Direitos de Autor (c) 2024 Medicina Interna
Este trabalho encontra-se publicado com a Licença Internacional Creative Commons Atribuição 4.0.
Direitos de Autor (c) 2023 Medicina Interna
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