{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T17:25:54Z","timestamp":1793381154930,"version":"4.5.0"},"reference-count":38,"publisher":"Georg Thieme Verlag KG","issue":"05","license":[{"start":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T00:00:00Z","timestamp":1716940800000},"content-version":"vor","delay-in-days":28,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"crossref","award":["06\/00499-1"],"award-info":[{"award-number":["06\/00499-1"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations.<\/jats:p><jats:p>\n          Objective\u2003To describe the diagnostic features and response to treatment in our cohort of WD patients.<\/jats:p><jats:p>\n          Methods\u2003This was a retrospective analysis of 262 WD patients stratified by clinical presentation, complementary exams, ATP7B genotyping, and response to treatment.<\/jats:p><jats:p>\n          Results\u2003Symptoms occurred at an average age of 17.4 (7\u201349) years, and patients were followed up for an average of 9.6 (0\u201345) years. Patients presented mainly with hepatic (36.3%), neurologic (34.7%), and neuropsychiatric (8.3%) forms. Other presentations were hematologic, renal, or musculoskeletal, and 16.8% of the patients were asymptomatic. Kayser-Fleischer rings occurred in 78.3% of the patients, hypoceruloplasminemia in 98.3%, and elevated cupruria\/24h in 73.0%, with an increase after D-penicillamine in 54.0%. Mutations of the ATP7B gene were detected in 84.4% of alleles. Brain magnetic resonance imaging showed abnormalities in the basal ganglia in 77.7% of patients. D-penicillamine was the first choice in 93.6% of the 245 patients, and 21.1% of these patients were switched due to adverse effects. The second-line therapies were zinc and trientine. The therapeutic response did not differ significantly between the drugs (p\u2009=\u20090.2). Nine patients underwent liver transplantation and 82 died.<\/jats:p><jats:p>\n          Conclusion\u2003Wilson disease is diagnosed at a late stage, and therapeutic options are limited. In people under 40 years of age with compatible manifestations, WD could be considered earlier in the differential diagnosis. There is a need to include ATP7B genotyping and therapeutic alternatives in clinical practice.<\/jats:p>","DOI":"10.1055\/s-0044-1786855","type":"journal-article","created":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T00:14:17Z","timestamp":1717028057000},"page":"001-009","source":"Crossref","is-referenced-by-count":5,"title":["Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases"],"prefix":"10.1055","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2945-9758","authenticated-orcid":false,"given":"Marta Mitiko","family":"Deguti","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Gastroenterologia, S\u00e3o Paulo SP, Brazil."},{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Instituto de Medicina Tropical, Laborat\u00f3rio de Gastroenterologia e Hepatologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5045-2943","authenticated-orcid":false,"given":"Fabiana Cordeiro","family":"Araujo","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Gastroenterologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4072-1761","authenticated-orcid":false,"given":"D\u00e9bora Raquel Benedita","family":"Terrabuio","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Gastroenterologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8423-256X","authenticated-orcid":false,"given":"Thiago Ferreira","family":"Araujo","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Instituto de Medicina Tropical, Laborat\u00f3rio de Gastroenterologia e Hepatologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6996-9130","authenticated-orcid":false,"given":"Egberto Reis","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Neurologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0274-6274","authenticated-orcid":false,"given":"Gilda","family":"Porta","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Pediatria, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9309-1524","authenticated-orcid":false,"given":"Eduardo Luiz Rachid","family":"Can\u00e7ado","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Gastroenterologia, S\u00e3o Paulo SP, Brazil."},{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Instituto de Medicina Tropical, Laborat\u00f3rio de Gastroenterologia e Hepatologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,5,29]]},"reference":[{"key":"ref2","doi-asserted-by":"publisher","first-page":"1997","DOI":"10.1093\/brain\/awp193","article-title":"Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. 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