Pesquisas estão em andamento e o rastreamento da população geral não está disponível. A medição da ceruloplasmina usando amostras de sangue impregnado em papel filtro em neonatos ou urina em crianças está sob investigação.[37]Owada M, Suzuki K, Fukushi M, et al. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J Pediatr. 2002 May;140(5):614-6.
http://www.ncbi.nlm.nih.gov/pubmed/12032531?tool=bestpractice.com
[38]Aoki K. Newborn screening in Japan. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:80.
http://www.ncbi.nlm.nih.gov/pubmed/15906702?tool=bestpractice.com
[39]Kroll CA, Ferber MJ, Dawson BD, et al. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab. 2006 Sep-Oct;89(1-2):134-8.
http://www.ncbi.nlm.nih.gov/pubmed/16644258?tool=bestpractice.com
Parentes de primeiro grau de qualquer paciente recém-diagnosticado com doença de Wilson devem ser rastreados para doença de Wilson.[5]Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: executive summary of the 2022 practice guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2023 Apr 1;77(4):1428-55.
https://journals.lww.com/hep/fulltext/2023/04000/a_multidisciplinary_approach_to_the_diagnosis_and.32.aspx
http://www.ncbi.nlm.nih.gov/pubmed/36152019?tool=bestpractice.com
[24]Shribman S, Marjot T, Sharif A, et al; British Association for the Study of the Liver Rare Diseases Special Interest Group. Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. Lancet Gastroenterol Hepatol. 2022 Jun;7(6):560-75.
http://www.ncbi.nlm.nih.gov/pubmed/35429442?tool=bestpractice.com
[25]Socha P, Janczyk W, Dhawan A, et al. Wilson's disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):334-44.
https://journals.lww.com/jpgn/Fulltext/2018/02000/Wilson_s_Disease_in_Children__A_Position_Paper_by.32.aspx
http://www.ncbi.nlm.nih.gov/pubmed/29341979?tool=bestpractice.com
[40]Reau N, Munoz SJ, Schiano T. Liver disease during pregnancy. Am J Gastroenterol. 2022 Oct 1;117(10s):44-52.
https://journals.lww.com/ajg/fulltext/2022/10001/liver_disease_during_pregnancy.8.aspx
http://www.ncbi.nlm.nih.gov/pubmed/36194033?tool=bestpractice.com
Obtenha uma história clínica do parente, incluindo sintomas de icterícia, história de doença hepática e quaisquer sintomas neurológicos ou psiquiátricos. Um exame físico deve ser realizado avaliando os estigmas da doença hepática, o funcionamento do sistema nervoso periférico e central e os anéis de Kayser-Fleischer (KF).
Investigações de rastreamento para parentes de primeiro grau de um paciente diagnosticado incluem:[5]Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: executive summary of the 2022 practice guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2023 Apr 1;77(4):1428-55.
https://journals.lww.com/hep/fulltext/2023/04000/a_multidisciplinary_approach_to_the_diagnosis_and.32.aspx
http://www.ncbi.nlm.nih.gov/pubmed/36152019?tool=bestpractice.com
[24]Shribman S, Marjot T, Sharif A, et al; British Association for the Study of the Liver Rare Diseases Special Interest Group. Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. Lancet Gastroenterol Hepatol. 2022 Jun;7(6):560-75.
http://www.ncbi.nlm.nih.gov/pubmed/35429442?tool=bestpractice.com
[25]Socha P, Janczyk W, Dhawan A, et al. Wilson's disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):334-44.
https://journals.lww.com/jpgn/Fulltext/2018/02000/Wilson_s_Disease_in_Children__A_Position_Paper_by.32.aspx
http://www.ncbi.nlm.nih.gov/pubmed/29341979?tool=bestpractice.com
Teste molecular para mutações em ATP7B ou estudos de haplótipos: podem ser usados como rastreamento primário, se disponíveis
Testes da função hepática, ceruloplasmina sérica e cobre sérico
excreção urinária de cobre durante 24 horas
Exame com lâmpada de fenda para anéis de KF
Biópsia hepática.