Wilson disease in South America: Brazil

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2018
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Cançado, E. L. R.; Barbosa, E. R.. Wilson disease in South America: Brazil. In: . CLINICAL AND TRANSLATIONAL PERSPECTIVES ON WILSON DISEASE: ELSEVIER, 2018. p.327-333.
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The first registered case of Wilson disease (WD) in Brazil was in 1944; since then, many publications about this disease contributed decisively to the better understanding of the disease in our country. The disease is distributed nationwide. In the two genetic studies performed, mutations of the ATP7B gene have a distinct geographic distribution. The p.A1135Qfs*13 frameshift mutation was most frequently found in patients from the northeast and southeast regions, while the p.H1069Q missense mutation was the most common in the southern region where significant European immigration occurred. In the endemic Brazilian regions of schistosomiasis mansoni, the differential diagnosis sometimes needs to be made between its hepatosplenic form with portal hypertension and hepatic WD. An interesting study was carried out in order to study the effects of the challenge test with 1.0 g of d-penicillamine in heterozygous individuals, and the results certainly help in the differential diagnosis, especially to identify the hepatic form of the disease. Several studies have been carried out to better understand the neurological manifestations, sleep disorders, and cognitive alterations of patients with WD. In Brazil, serious problems in dispensing drugs to treat WD still occur. After 2014, trientine has literally disappeared from the public health system and even d-penicillamine is not always readily available, making it extremely difficult to begin or maintain treatment for hepatic WD. © 2019 Elsevier Inc. All rights reserved.
Palavras-chave
ATP7B gene, Ceruloplasmin, Cupruria, Penicillamine, Schistosomiasis mansoni, Wilson disease, Zinc salts
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https://observatorio.fm.usp.br/handle/OPI/51098
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Coleções
Livros e Capítulos de Livros - FM/MGT
Livros e Capítulos de Livros - HC/ICHC
Livros e Capítulos de Livros - LIM/06
Livros e Capítulos de Livros - LIM/45