Uma doença hereditária muito rara que afeta vários sistemas do corpo, causando sintomas variados e que não são específicos, como problemas no cérebro e nos nervos, no fígado, mentais ou nos ossos e músculos. Esses problemas surgem devido ao acúmulo exagerado de cobre no organismo.
Introdução
O que você precisa saber de cara
A doença de Wilson é um distúrbio hereditário no qual quantidades excessivas de cobre se acumulam no corpo, particularmente no fígado, cérebro e olhos. Os sinais e sintomas da doença de Wilson geralmente aparecem pela primeira vez entre as idades de 6 e 45 anos, mas com maior frequência surgem durante a adolescência. As características desta condição incluem uma combinação de doença hepática e problemas neurológicos e psiquiátricos.
A doença hepática costuma ser a característica inicial da doença de Wilson em crianças e jovens adultos afetados; indivíduos diagnosticados em idade mais avançada geralmente não apresentam sintomas de problemas hepáticos, embora possam ter uma doença hepática muito leve. Os sinais e sintomas da doença hepática incluem amarelamento da pele ou da parte branca dos olhos (icterícia), fadiga, perda de apetite e inchaço abdominal.
Problemas do sistema nervoso ou psiquiátricos são frequentemente as características iniciais em indivíduos diagnosticados na idade adulta e ocorrem comumente em jovens adultos com a doença de Wilson. Os sinais e sintomas desses problemas podem incluir descoordenação, tremores, dificuldade para caminhar, problemas de fala, capacidade de pensamento prejudicada, depressão, ansiedade e alterações de humor.
Em muitas pessoas com a doença de Wilson, depósitos de cobre na superfície frontal do olho (a córnea) formam um anel verde‑amarronzado, chamado anel de Kayser‑Fleischer, que circunda a parte colorida do olho. Anormalidades nos movimentos oculares, como capacidade restrita de olhar para cima, também podem ocorrer.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoUma doença hereditária muito rara que afeta vários sistemas do corpo, causando sintomas variados e que não são específicos, como problemas no cérebro e nos nervos, no fígado, mentais ou nos ossos e músculos. Esses problemas surgem devido ao acúmulo exagerado de cobre no organismo.
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<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 50 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 106 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Curadoria gene-doença
fontes oficiaisWilson disease
An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.
Variantes genéticas (ClinVar)
1.257 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3.393 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de Wilson
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença de Wilson
Centros para Doença de Wilson
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.176
Case Report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy.
Wilson disease (WD) and familial hypertriglyceridemia (FHTG) are both genetic metabolic diseases, and their comorbidity is extremely rare. This article reports a case of WD with FHTG in a 12-year-old Chinese boy. The patient was diagnosed due to elevated transaminase levels, combined with clinical manifestations, copper metabolism indexes, lipid profile analysis, and genetic testing results (pathogenic mutations of ATP7B and APOA5). The patient was treated using a copper chelating agent to lower copper levels and fibrate drugs to lower lipid levels, which resulted in improvements in his liver function and blood lipid indices. This case serves as a source of reference for the diagnosis and treatment of other similar cases. It not only reveals the potential interaction between copper metabolism disorders and lipid abnormalities, but also highlights the importance of systematic genetic testing to identify comorbid inheritance.
Evaluation of novel assays of non-ceruloplasmin copper to monitor chelation treatment in patients with Wilson disease: Monitoring chelation treatment in Wilson disease.
We examined the use of two newer measures of non-ceruloplasmin bound copper (NCC) and 24-hour urinary Cu excretion (UCE) to monitor chelation therapy in clinically stable Wilson Disease (WD). We post-hoc analyzed data from Chelate study, in which 77 clinically stable WD patients on penicillamine (DPA) entered a 12-week screening phase after which 53 were randomized to continued DPA or same dose trientine-tetrahydrochloride (TETA4) (weeks 12-60). Data included NCC measured by protein speciation (NCC-Sp), exchangeable copper (NCC-Ex), and UCE. In 32/53 patients with unchanged dose from week 1 to 60, NCC-Sp decreased from 57.9±21.1μg/L to 39.6±16.25μg/L (P=0.0002), while NCC-Ex decreased from 56.4±20.3μg/L to 46.2±11.5(P=0.01), likely due to improved adherence during participation in a clinical trial. UCE dropped by ∼50% after switching to TETA4 and gradually decreased in the DPA arm. Biomarker values did not reach steady state until week 60. The visit-to-visit coefficient of variance was 30% for NCC-Sp, 20% for NCC-Ex and 52% for UCE. Including all 45 patients who completed week 60, those with lower tertile values of NCC-Sp (16.3-30.9μg/L) and NCC-Ex (18.7-43.1μg/L) had lower and more stable AST and ALT, and higher and more stable S-Albumin and S-Protein than those with higher values. No neurological changes were noted despite these differences in NCC. Copper deficiency was not observed. Non-ceruloplasmin by protein speciation and exchangeable copper have potential to guide chelation in WD patients on maintenance therapy. Specific target ranges should be established, and we hypothesize they may include values below normal ranges. Further studies are required to improve our understanding of the responses to dose changes and non-adherence and if standardization of sampling conditions can reduce visit-to-visit variability. (NCT03539952) IMPACT AND IMPLICATIONS: The use of biomarkers of copper metabolism (non-ceruloplasmin and 24 hour urinary copper excretion) to monitor chelating treatment in Wilson Disease is poorly supported by data and development of newer methodologies (NCC-Ex and NCC-Sp) further supports re-evaluation in longitudinal studies. Our study suggests that in patients with stable Wilson disease, the response of NCC-Sp and NCC-Ex to a dose change may take as long as 6-12 months to achieve and with an intraindividual visit-to-visit variation coefficient of ≈ 20-25% this will impact clinical practice and decision making (requiring serial measurements) and estimation of sample size and longevity of clinical trials. Steady state NCC-Ex and NCC-Sp below the commonly recommended 50-150 μg/L range were associated with stable ALT, AST, S-albumin, and S-protein in contrast to values above 50 μg/L, where ALT and AST increase and S-albumin and S-protein decreased, suggesting that future prospective studies may lead to re-evaluation and changes to ranges for treatment goals for NCC-Ex and NCC-Sp. The lack of a similar association of UCE and clinical outcome and high variation (51%) question the current use of UCE to guide dosing in WD patients with stable disease.
Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Conventional genetic diagnostics are low-throughput and may miss intronic, structural, or phenocopy variants, leading to delayed or missed diagnoses. In this study, we evaluate the utility of a custom next-generation sequencing (NGS) panel targeting the full-length ATP7B gene and 10 additional copper metabolism-related genes in patients with clinically suspected WD. We conducted a prospective cohort study of 144 individuals at our neurogenetic center. Variants identified by NGS were filtered and annotated with in silico tools and classified according to American College of Medical Genetics and Genomics guidelines. Confirmatory Sanger sequencing, multiplex ligation-dependent probe amplification, and reverse transcription PCR assays were performed as needed. Genetic confirmation of WD was achieved in 129 of 144 patients (90%), including 80 typical (Leipzig score ≥4) and 49 atypical (score <4) cases. Ten novel ATP7B variants, including deep intronic, noncanonical splice, and copy number variants, were identified using this panel. Among 15 genetically unresolved cases, 6 harbored variants in other copper metabolism-related genes but no pathogenic ATP7B variants. Notably, 1 patient with a Leipzig score of 4 had been clinically diagnosed with WD for years but was reclassified as spinocerebellar ataxia type 12 after panel testing revealed only a heterozygous CP variant and a CAG repeat expansion in PPP2R2B. Our comprehensive multigene NGS panel enables precise diagnosis of WD by detecting both classical and unconventional pathogenic variants, as well as distinguishing phenocopies. This improved diagnostic accuracy underscores the value of early genetic testing to guide timely intervention, especially in atypical or early-stage cases.
Liver Iron Accumulation in Recompensated Wilson Disease on Chelation Therapy: A Prospective Evaluation in Children.
As serum ceruloplasmin has ferroxidase properties, we hypothesized that Wilson disease (WD) may have greater iron accumulation than other liver diseases. We aimed to assess liver iron overload in WD by evaluating the iron metabolism biomarkers and liver iron concentration (LIC). Compensated and recompensated WD patients with ≥3 years of chelation and serum exchangeable copper (ExCu) < 1.15 μmol/L were recruited and compared to controls. All patients underwent assessment of iron metabolism biomarkers and T2∗-weighted liver magnetic resonance imaging (MRI) for LIC. High LIC was defined as >1.5 mg/g dry weight (dw). Thirty-seven WD patients were compared to age, sex, and liver disease score-matched controls (n = 10). High LIC was seen in 49% WD vs. 10% controls (P = 0.027). In those with a duration of chelation ≥6 years vs. <6 years, high LIC was found in 89% vs. 58% (P = 0.03). High LIC was seen in 3/9 (30%), 7/15 (47%), and 8/13 (62%) of the WD patients in 3-5 years, 6-9 years, and 10-12 years of chelation therapy, respectively. In those with LIC >1.5 mg/g dw (n = 18) and LIC >2.0 mg/g dw (n = 10), longer duration of chelation therapy inversely correlated with serum ferroxidase activity (r = -0.7, P < 0.001; r = -0.75, P = 0.01 respectively). Serum ferritin had poor correlation with LIC (r = 0.177, P = 0.3). Mean (standard deviation) ExCu in high vs. normal LIC were 0.66 (0.27) vs. 0.94 (0.33), P = 0.01. High LIC is found in approximately half of WD patients, especially in those with ≥6 years of chelation therapy and low ExCu. MRI is recommended as a screening tool for iron overload in WD.
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.
The COVID-19 pandemic presented unique challenges for patients with inherited metabolic diseases (IMDs), particularly due to the risk of infection-related metabolic decompensation and disruptions to specialized care. We aimed to assess the impact of COVID-19 infection on the clinical course of patients with IMDs in a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. This national French study included 317 IMD patients (69 children and 248 adults) with symptomatic or asymptomatic COVID-19 infection between January 2020 and January 2023. Most COVID-19 cases were mild to moderate. The frequency of symptomatic COVID-19 was similar in adults and children (234/248 [94.3%] vs. 56/64 [87.5%], p = 0.09). Children experienced more frequently metabolic destabilization than adults during a COVID-19 infection (17/67 [25.4%] vs. 33/248 [13.3%], p = 0.03). Moreover, the proportion of children admitted to the ICU was higher than that of adult patients (5/69 [7.2%] vs. 4/248 [1.6%], p = 0.04). Temporary suspension or delay of IMD-specific treatment due to COVID-19 was rare, affecting 3/64 (4.7%) children and 13/229 (5.7%) adults. Severe COVID-19 outcomes were uncommon, with only one death in the adult cohort and five cases of long-term sequelae (1 child, 4 adults). COVID-19 was generally mild to moderate in IMD patients and caused metabolic decompensation or imbalance in a minority of cases, with only rare interruptions to disease-specific treatment. We observed that COVID-19 more frequently worsened the condition of children with IMD compared to adults in our cohort of patients. The online version contains supplementary material available at 10.1186/s13023-026-04230-8.
Publicações recentes
Specific Therapies For ALF: Viral, Autoimmune and Wilson Disease.
📖 RevisãoCRISPR/Cas9-mediated gene correction of Wilson disease H1069Q point mutation in patient-specific induced pluripotent stem cells.
Undiagnosed Wilson Disease in Cryptogenic Cirrhosis: A Genetic Study.
📖 RevisãoDiagnostic Accuracy of Exchangeable Copper for Grading the Severity of Wilson Disease.
A cross-sectional analysis of the quality and reliability of Wilson disease videos on Bilibili, Douyin, and Kuaishou.
📚 EuropePMC1.580 artigos no totalmostrando 197
Case Report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy.
Frontiers in pediatricsMultiscale computational genomics in Wilson disease: from atomic dynamics to clinical prediction.
Frontiers in geneticsSpectrum of pathogenic variants in ATP7B gene causing Wilson Disease in Mexican patients.
Archives of medical researchThe role of zinc transporter 1 (ZnT1) in health and disease: From molecular mechanisms to therapeutic opportunities.
European journal of medicinal chemistryEvaluation of novel assays of non-ceruloplasmin copper to monitor chelation treatment in patients with Wilson disease: Monitoring chelation treatment in Wilson disease.
JHEP reports : innovation in hepatologyRelative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence.
American journal of medical genetics. Part AExposure to copper induces oxidative stress and apoptosis in human MEG-01 cells.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.
Neurology. GeneticsLiver Iron Accumulation in Recompensated Wilson Disease on Chelation Therapy: A Prospective Evaluation in Children.
Journal of clinical and experimental hepatologyDual carrier status for HUPRA (hyperuricemia, pulmonary hypertension, renal failure, and alkalosis) syndrome and Wilson disease in a young dialysis patient: clinical and genetic counseling implications.
Clinical transplantation and researchAnalyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.
Human mutationTikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.
JMIR formative researchNeuropsychiatric Symptoms After Liver Transplant for Wilson's Disease: A US-Based Multicenter Retrospective Cohort Study.
Clinical transplantationUnmasking Wilson's Disease Through Severe Psychiatric Manifestations: A Case Report.
CureusPatient Burden in the Treatment of Wilson Disease in the United States: An Analysis of Real-World Health Insurance Claims Data from the Komodo database.
Advances in therapyGeneralized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report.
Tremor and other hyperkinetic movements (New York, N.Y.)The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.
Orphanet journal of rare diseasesMLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.
Journal of translational medicineImpact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.
Orphanet journal of rare diseasesGenetic findings in ten Ecuadorian patients with suspected Wilson's disease.
Human genomicsGait deviations in adolescent patients with Wilson disease and their possible connections with biochemical markers: preliminary results.
European journal of pediatricsSpatiotemporal abnormalities in brain networks as a signature of neurological damage in Wilson's disease.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyNON-REDUNDANT ROLES OF COPPER TRANSPORTERS ATP7A AND ATP7B IN NORADRENERGIC SIGNALING.
bioRxiv : the preprint server for biologyWhole-exome sequencing illuminates unexplained pediatric cholestatic liver disease.
World journal of hepatologyEvaluation of retinal microvascular changes and laboratory characteristics in children with Wilson disease: an optical coherence tomography angiography study.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusClinical and Demographic Profile of Wilson Disease in Young Adults: A Retrospective Study at a Tertiary Care Center in Peshawar, Pakistan.
CureusNeurologic Manifestations of Hepatic and Gastrointestinal Disease.
Continuum (Minneapolis, Minn.)Deciphering Copper Homeostasis and Cuproptosis: Biological Mechanisms, Disease Connections, and Cutting-Edge Copper-Based Nanomedicine.
Molecular pharmaceuticsHigh copper levels induce oxidative stress and inflammatory processes in a cell culture model of Wilson's disease.
Molecular and cellular biochemistryDiagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review.
Advances in clinical and experimental medicine : official organ Wroclaw Medical UniversityRe-examining the Diagnostic Criteria for Wilson's Disease: A Case Report and Literature Review.
CureusClinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.
Sultan Qaboos University medical journalGlobal burden of Wilson disease: a comprehensive evidence synthesis.
Orphanet journal of rare diseasesAcute hepatitis of unknown origin in 38-year-old man: A case report.
MedicineFurther elucidation on the effect of food on the pharmacokinetics of trientine.
European journal of clinical pharmacologyRole of cuproptosis in digestive system tumors (Review).
International journal of molecular medicineMitochondrial dysfunction in Wilson disease: a systematic review and meta-analysis across human and animal models.
Frontiers in molecular biosciencesStudy on the effect of mesenchymal stem cells on neural injury, inflammation and copper content in Wilson disease.
Frontiers in cellular neuroscienceComprehensive urinary proteomics using DIA and PRM for low-abundance protein profiling of Wilson disease.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesDiscovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics.
Orphanet journal of rare diseasesWilson Disease Hiding in Plain Sight: A Case Report of Psychosis and Catatonia Revealing Underlying Liver Dysfunction.
Reports (MDPI)New insights into the effects of dissolution profiles on the pharmacokinetics of trientine dihydrochloride.
European journal of clinical pharmacologyComparative review of copper-associated chronic hepatitis in dogs and Wilson disease in humans.
Frontiers in veterinary scienceRepurposing melatonin's therapeutic potential in Wilson disease: Addressing copper overload and redox imbalance.
Redox biologyJuvenile/adult-onset POLG-related disease unmasked by valproate-associated fulminant hepatic failure.
BMJ case reportsRapid transcellular hepatic copper depletion by ARBM-101 rescues severe liver damage in Wilson disease rodents.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieCarbon-ion Radiotherapy for Hepatocellular Cancer Arising in Transplanted Liver Tissue.
Anticancer researchCoexisting elastosis perforans serpiginosa and acquired cutis laxa following long-term penicillamine in Wilson disease.
Skin health and disease[LncRNA Meg3 expression level is negatively correlated with liver fibrosis severity in patients with Wilson disease].
Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityMelatonin ameliorates copper accumulation-induced cognitive impairment in Wilson disease via activation of the SIRT3/FOXO3α signaling pathway.
NeuropharmacologyRare but relevant: Genetic liver disease in the general medical setting.
Clinical medicine (London, England)Nuances in ATP7B Genetic Testing and Interpretation in India.
Journal of clinical and experimental hepatologyFrom Radiocopper to Cold Copper: Mechanistic Modeling and Simulation to Define Clinical Response Criteria and Biomarkers for VTX-801 in Wilson Disease.
CPT: pharmacometrics & systems pharmacologyHaematological Predictors of Cirrhosis in Paediatric Wilson Disease: A Record-Based Analysis.
CureusUncovering the Critical Role of Cuproptosis in Wilson Disease: Insights Into Potential Therapeutic Targets.
Journal of cellular and molecular medicineRare liver diseases - Etiology, diagnosis and management: A review.
Biomolecules & biomedicineManagement of Wilson disease across Europe: an international physician-oriented survey by the ERN-RARE Liver group.
Orphanet journal of rare diseasesCopper in Human Health and Disease: Insights from Inherited Disorders.
Physiology (Bethesda, Md.)Multiple Genetic Analysis Unravels Pseudoexon in ATP7B in a Patient with Clinically Diagnosed Wilson Disease.
Movement disorders clinical practiceMinimal Criteria to Screen for Wilson Disease: A Delphi Consensus in the United States.
International journal of hepatologyAdherence, satisfaction, and quality of life in Wilson disease patients after switching to trientine tetrahydrochloride: observational data from a dual cohort study.
Frontiers in pharmacologyAnalysis of factors affecting early hepatic steatosis in pediatric patients with Wilson's disease in China: A retrospective study.
MedicineThe role of copper dysregulation in Wilson disease: an expert opinion.
Frontiers in medicineVentricular arrhythmia-induced syncope as the initial presentation of Wilson disease in a 4-year-old child: a rare case report.
Cardiology in the young[Recommendations from the European Association for the Study of the Liver and the European Reference Network for Rare Liver Diseases Clinical Practice Guidelines for hepatolenticular degeneration].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyNovel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients.
Scientific reportsInactivation of Atp7b Copper Transporter in Intestinal Epithelial Cells Is Associated with Altered Lipid Processing and Cell Growth Machinery Independent from Hepatic Copper Accumulation and Severity of Liver Histology.
The American journal of pathologyPathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.
Genes & genomicsHepatocyte-targeted lipid nanoparticle for full-length ATP7B mRNA delivery in Wilson disease.
Journal of controlled release : official journal of the Controlled Release SocietyCopper-associated Chronic Hepatitis in Dogs.
The Veterinary clinics of North America. Small animal practiceIntrahepatic Cholangiocarcinoma in Wilson's Disease: 2 Case Reports.
GE Portuguese journal of gastroenterologyDefining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature.
Molecular genetics and metabolismComparative management practices of Wilson disease in Californian and Italian providers.
Journal of health, population, and nutritionDiet quality and nutritional risk in patients with Wilson's disease: a cross-sectional study.
Frontiers in nutritionBrugada ECG Pattern in Wilson Disease: Genetic Coincidence or Triggered Phenocopy?
JACC. Case reportsPositioning the Cu/Zn Ratio within the Diagnostic Framework of Wilson Disease: Methodological and Conceptual Considerations.
Pediatric gastroenterology, hepatology & nutritionRevolutionizing Wilson disease prognosis: a machine learning approach to predict acute-on-chronic liver failure.
Journal of translational medicineRelative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
JHEP reports : innovation in hepatologyOral bis-choline tetrathiomolybdate rapidly improves copper balance in patients with Wilson disease.
Journal of hepatologyThe burden of Wilson's disease: Insights into clinical, psychological, and functional dimensions.
RehabilitacionA Case of Wilson's Disease With Early Neuropsychiatric and Late Hepatic Manifestations.
CureusRepurposing Melatonin in dual-mode for Wilson disease therapy as a Copper Chelator and an antioxidant agent.
bioRxiv : the preprint server for biologyHigh-Calorie Diet Accelerates the Liver Tissue Degeneration and Induces Subcutaneous White-to-Brown Fat Conversion in Mice with a Single-Allele Atp7b Mutation.
The Journal of nutritionIsolated Stiffness as a Predominant Manifestation of Wilson Disease: A Case Report.
Clinical case reportsDevelopment and validation of a nomogram model for prediction of dyslipidemia in children with Wilson disease: a retrospective analysis.
Frontiers in endocrinologyMethanobactin rapidly facilitates biliary copper excretion in a Wilson disease rat model visualised by 64Cu PET/MRI.
British journal of pharmacologyLabile Bound Copper (LBC) and Total Serum Copper Concentrations in Newborns and Infants.
Biological trace element researchCombined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.
Clinica chimica acta; international journal of clinical chemistryAn adolescent with newly diagnosed Wilson disease having underlying type 1 diabetes: A previously unreported combination.
Journal of family medicine and primary careMechanisms of copper metabolism and cuproptosis: implications for liver diseases.
Frontiers in immunologyMetallothionein and neurodegenerative diseases.
Neural regeneration researchNative liver survival with therapeutic plasma exchange in acutely decompensated hepatic Wilson Disease: revisiting the Dhawan index.
Hepatology international[Progress on the research of hepatolenticular degeneration].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologySerum copper and ceruloplasmin levels as biomarkers reflecting liver fibrosis in children with autoimmune hepatitis.
Clinical and experimental pediatricsMetallothioneins in the Pathogenesis of Liver Diseases: A Review.
International journal of hepatologyDiagnosing Wilson Disease in Acute Liver Failure: Comparison of Existing and Experimental Biomarkers.
The American journal of gastroenterologySystematic Review and Meta-Analysis of Secondary Treatment Failure and Immunogenicity With Botulinum Neurotoxin A in Multiple Indications.
European journal of neurologyWilson Disease Masquerading as Nephrotic Syndrome: A Case Report.
CureusFunctional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Human mutationDiagnostic Pitfalls in Wilson Disease with Autoimmune Features: A Case Report.
GE Portuguese journal of gastroenterologyHypocupraemia-related drug-refractory seizures in Wilson disease.
Practical neurologyOptimizing therapeutic plasma exchange in Wilson disease-related liver failure: toward precision bridging strategies.
Hepatology internationalA rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report.
MedicineAtrophy related neuroimaging biomarkers for neurological and cognitive function in Wilson disease.
Neurological research and practiceCLSI Validation of Exchangeable Copper Determination in Serum by ICP-MS: A Focus on Alzheimer's Disease and Wilson Disease.
BiomoleculesClinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.
Archives of gynecology and obstetricsMapping neurological symptoms and muscle tension representations in impaired gray matter volume of Wilson disease.
Frontiers in neurologyLiver transplantation in patients with neurological Wilson disease: What can a five-decade systematic literature review teach us?
Transplantation reviews (Orlando, Fla.)Explainable machine learning model predicting neurological deterioration in Wilson's disease via MRI radiomics and clinical features.
Parkinsonism & related disordersPitfalls in the Diagnosis of Wilson Disease.
Current neurology and neuroscience reportsMetabolic Dysfunction-Associated Steatotic Liver Disease in Patients and Mice with Wilson Disease.
The American journal of pathologyLiver transplantation in Wilson disease: a single-center experience.
Orphanet journal of rare diseasesA New Dystonia Phenotype in Wilson Disease.
JAMA neurologyPredictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry.
Orphanet journal of rare diseasesWilson disease: time frame for improvement of neurological symptomology may exceed a decade.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPostoperative Outcomes Following Liver Transplantation for Wilson's Disease: A Systematic Review and Meta-Analysis.
Clinical transplantationAcute Deep Vein Thrombosis Presents as an Early Complication of Wilson Disease.
CureusChanges in the FXR-cistrome and alterations in bile acid physiology in Wilson disease.
Hepatology communicationsA single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation.
iSciencemiRNA-29b-3p: An Important Target for Ameliorating Liver Fibrosis in Wilson Disease by Inhibiting Autophagy.
Current molecular medicineApolipoprotein-decorated drug loaded liposomes mitigating copper intoxication: an in vitro and in vivo evidence-based study intervening Wilson disease.
Naunyn-Schmiedeberg's archives of pharmacologyMental and Physical Health in Wilson Disease Patients With SARS-CoV-2 Infection and Relevance of Long-COVID.
JIMD reportsPsychiatric Presentation of Wilson's Disease: A Rare Disease With an Unusual Manifestation.
CureusClinical significance of platelet-to-white blood cell ratio in patients with Wilson disease: a retrospective cohort study.
PeerJPlasma exchange improves survival with native liver in Wilson disease with new Wilson's index ≥ 11 & early hepatic encephalopathy.
Hepatology internationalFrom severe aplastic anemia with TERT variant to Wilson disease - associations or not.
Annals of hematologyEmerging roles of cuproptosis in liver diseases.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverComparative evaluation of anterior segment optical coherence tomography and in vivo confocal microscopy for Kayser-Fleischer rings assessment in Wilson disease.
BMC ophthalmologyIncidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.
Orphanet journal of rare diseasesRelative Exchangeable Copper, Exchangeable Copper and Total Copper in the Diagnosis of Wilson Disease.
Liver international : official journal of the International Association for the Study of the LiverCopper in human health: From COVID 19 to neurodegenerative diseases.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)Correlation between differences in the intestinal flora structure and Chinese medicine evidence in patients with Wilson disease-related liver fibrosis analyzed via high-throughput sequencing technology.
Bioscience of microbiota, food and healthBuilding Clinical and Research Delivery Networks: A Blue Print for Multidisciplinary Management and Consensus in Wilson Disease.
GE Portuguese journal of gastroenterologyChallenges and Recent Advances in Diagnosing Wilson Disease.
Journal of clinical and experimental hepatologyCase report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.
Frontiers in neurologyPractical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.
GE Portuguese journal of gastroenterologyHepatic microtubule destabilization facilitates liver fibrosis in the mouse model of Wilson disease.
Journal of molecular medicine (Berlin, Germany)The Effect of Consanguineous Marriage on the Epidemiology of Wilson Disease among Children: A Report from Southern Israel.
The Israel Medical Association journal : IMAJWilson disease combined with polycystic ovary syndrome-clinical features, treatment, and outcome in Chinese patients.
BMC endocrine disorders[Gandou Bushen Decoction Ameliorates Cognitive Impairment in Wilson Disease Model TX Mice by Regulating Melatonin Synthesis via the SIRT3/FOXO3α Pathway].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionApplication of Anterior Segment Optical Coherence Tomography in Detecting Kayser-Fleischer Rings in Wilson Disease.
CorneaProspective Study to Assess Long-Term Outcomes of Chelator-Based Treatment With Trientine Dihydrochloride in Patients With Wilson Disease.
JGH open : an open access journal of gastroenterology and hepatologyPerformance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure.
Journal of inherited metabolic diseaseLean Metabolic Dysfunction-Associated Steatotic Liver Disease: A Comparative Analysis of Hepatic and Oncological Outcomes.
Journal of clinical gastroenterologyCopper-Induced Neurodegenerative Disorders and Therapeutic Potential of Curcumin-Loaded Nanoemulsion.
ToxicsThe Importance of Genetic Testing: A Case Report of Wilson's Disease in Two Siblings of a Three-Sibling Family.
CureusAceruloplasminemia as a rare hereditary disease: four case reports in a single center.
Proceedings (Baylor University. Medical Center)Unmasking Wilson Disease: A Rare Paediatric Case of Haemolysis and Hepatic Dysfunction Without Neurological Features.
CureusSpectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Saudi medical journalGenetic map of Wilson disease in Spain - A great tool to improve diagnosis and screening.
Revista espanola de enfermedades digestivasCorrelation of shear wave elastography with liver biopsy in children with Chronic Liver disease.
Pakistan journal of medical sciencesClinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.
Biochemical geneticsPrion protein promotes copper toxicity in Wilson disease.
Nature communicationsAcute Encephalopathy and Refractory Hypokalemia in a 12-Year-Old Boy.
Iranian journal of child neurologyDystonia in a child with neurocysticercosis mimicking neuro Wilson disease.
Sudanese journal of paediatricsWilson's disease in two siblings from Ecuador: Two case reports.
World journal of clinical casesAdvancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
International journal of neonatal screeningUnprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.
Annals of neurosciencesA comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?
Orphanet journal of rare diseasesA clinical study showing the expression characteristics of cuproptosis markers in cases with Wilson disease.
MedicineElevated Hepatic Copper Content in Porto-Sinusoidal Vascular Disorder (PSVD): Leading Down a Wrong Track.
Liver international : official journal of the International Association for the Study of the LiverWilson disease in the USA: epidemiology and real-world patient characteristics based on a retrospective observational health claims study.
BMJ openIndian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyGenetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.
Journal of pediatric gastroenterology and nutritionIron and Copper Liver Concentrations in Wilson Disease.
Journal of gastrointestinal and liver diseases : JGLDMildly Elevated Liver Transaminase Levels: Causes and Evaluation.
American family physicianTargeted and non-targeted proteomics to identify the urinary protein biomarkers for Wilson disease.
Clinica chimica acta; international journal of clinical chemistry[Gandou Bushen Decoction improves spermatogenesis and promotes spermatogenic cell proliferation in Wilson disease TX mice by activating testicular ERK signaling pathway].
Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityAcute Liver Failure Etiology Determines Long-Term Outcomes in Patients Undergoing Liver Transplantation: An Analysis of the UNOS Database.
Journal of clinical medicineEpidemiology and economic burden of Wilson disease in France: A nationwide population-based study.
Journal of inherited metabolic diseaseBrain morphometry in hepatic Wilson disease patients.
Journal of inherited metabolic diseaseGenetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain.
CureusThe Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.
Movement disorders clinical practiceCopper and Colorectal Cancer.
CancersClinical experience on switching trientine tetrahydrochloride to trientine dihydrochloride in Wilson disease patients.
JIMD reportsSystematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Biomarker insightsWilson Disease: Novel Diagnostic and Therapeutic Approaches.
Seminars in liver diseaseDeep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta-analysis of an N-of-1 trial.
European journal of neurologyUnusual Confluence: Exploring the Association of Biliary Atresia, Wilson Disease, and Iron Overload.
ACG case reports journalZinc gluconate for Wilson disease.
Clinical parkinsonism & related disordersContrast-enhanced ultrasound findings of sclerotic nodules in Wilson disease: A case report.
MedicineKayser-Fleischer ring and sunflower cataract in Wilson disease.
QJM : monthly journal of the Association of PhysiciansTrientine Tetrahydrochloride, From Bench to Bedside: A Narrative Review.
DrugsNeuroimaging Correlates with Clinical Severity in Wilson Disease: A Multiparametric Quantitative Brain MRI.
AJNR. American journal of neuroradiologyAmantadine-induced psychosis in Wilson disease.
The National medical journal of IndiaDysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson Disease.
Cellular and molecular gastroenterology and hepatologyValidation of Metallothionein Immunohistochemistry as a Highly Sensitive Screening Test for Wilson Disease.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncRelative exchangeable copper, a high-quality biomarker for differentiation of Traditional Chinese Medicine syndrome in Wilson's disease.
Journal of traditional Chinese medicine = Chung i tsa chih ying wen panStructural lesions and transcriptomic specializations shape gradient perturbations in Wilson disease.
Brain communicationsExchangeable serum copper: Adult and pediatric reference intervals and in vitro stability in a nordic cohort.
Clinica chimica acta; international journal of clinical chemistryA Qualitative Study Exploring Experiences in Caregiving for Patients With Advanced Wilson Disease.
The Journal of neuroscience nursing : journal of the American Association of Neuroscience NursesGeneration of an induced pluripotent stem cell (iPSC) line (IGIBi026-A) derived from Wilson disease patient harboring compound heterozygous mutations [c.2165dupT (p.R723Efs31) and c.C813A (p.C271*)] in the ATP7B gene.
Stem cell researchLow penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverExchangeable copper for patients with Wilson disease at follow-up: Rethinking normal ranges or changing methodology.
Hepatology (Baltimore, Md.)Progressive familial intrahepatic cholestasis 3 Camouflaging as Wilson disease in a 12-year-old: a diagnostic Odyssey.
Gastroenterology and hepatology from bed to benchPhenotypic and genetic characterization of children with Wilson Disease from Northeast China.
BMC pediatricsNontraumatic intra-diploic arachnoid cyst communicating with sphenoid bone and in close proximity to cavernous sinus in a known case of Wilson disease: A rare entity.
Radiology case reportsAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença de Wilson e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Este é o documento que organiza diagnóstico, tratamento e dispensação de Doença de Wilson no SUS. O que a farmácia entrega é o que está no PCDT vigente — não o que foi aprovado fora do Brasil.
A causa da Doença de Wilson são mutações no gene ATP7B, responsável pelo transporte adequado de cobre no organismo. Com a função dessa proteína prejudicada, o cobre se acumula de forma contínua em órgãos como fígado, cérebro e olhos.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Doença de Wilson. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-de-wilson
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença de Wilson
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
