ArticleOrphanet journal of rare diseases2022
Wilson disease in Northern Portugal: a long-term follow-up study.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Wilson's Disease in Oman: A National Cohort Study of Clinical Spectrum, Diagnostic Delay, and Long-Term Outcomes.Clinics and practice · 2025Article
- Seven decades of clinical experience with Wilson's disease: Report from the national reference centre in Poland.European journal of neurology · 2024Article
- Epidemiology of Wilson disease in Germany - real-world insights from a claims data study.Orphanet journal of rare diseases · 2024Article
- Copper, Iron, Cadmium, and Arsenic, All Generated in the Universe: Elucidating Their Environmental Impact Risk on Human Health Including Clinical Liver Injury.International journal of molecular sciences · 2024Review
- Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update.International journal of molecular sciences · 2024Review
- Wilson's Disease with Acute Hepatic Onset: How to Diagnose and Treat It.Children (Basel, Switzerland) · 2024Review
- Treatment patterns in a real-world cohort of patients with Wilson disease in the United States.Frontiers in gastroenterology (Lausanne, Switzerland) · 2024Article
- Four-fold increased mortality rate in patients with Wilson's disease: A population-based cohort study of 151 patients.United European gastroenterology journal · 2023Article
- Article
- Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study.Journal of clinical medicine · 2023Article
- Clinical signs and symptoms of Wilson disease in a real-world cohort of patients in the United States: a medical chart review study.Frontiers in gastroenterology (Lausanne, Switzerland) · 2023Article
- Challenges and Recent Advances in Diagnosing Wilson Disease.Journal of clinical and experimental hepatologyReview
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6 authors.
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Abstract
introductionWilson disease is an autosomal recessive disease of liver copper metabolism with predominant hepatic and neurological manifestations. Long-term data on the clinical follow-up and treatment efficacy are limited due to the low frequency of the disease. We evaluated a large cohort of Wilson disease patients from Northern Portugal during a 20-year follow-up period.
methodsTwenty-four patients, diagnosed from 1975 to 2020 in a tertiary care center in Portugal, were retrospectively evaluated according to their clinical presentation, therapies and outcomes.
resultsMost of the patients were males (54%), with a median age at diagnosis of 19 years old (interquartile range 15-25). The main manifestations of Wilson disease were hepatic (71%) and neurological (25%). Family history was positive in 5 (21%) patients. Four patients (17%) presented with acute liver failure and fifteen (63%) individuals had cirrhosis at diagnosis. Penicillamine therapy was used by 11 (46%) patients, while trientine and zinc were given to 8 (33%) and 1 (4%) patient, respectively. Ten (42%) individuals underwent liver transplantation. The majority of patients (83%) had stable disease or improved outcomes during follow-up.
conclusionThis is the largest cohort of adult patients with Wilson disease reported in Northern Portugal. We show that Wilson disease has favorable outcomes with long overall survival, assuming adherence to therapy and lack of other insults to their liver.
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