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Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

1
Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain
2
Joint Unit on Rare Diseases CIPF-IIS La Fe, 46012 Valencia, Spain
3
Hepatology-Liver Transplantation Unit, Digestive Medicine Service, IIS La Fe and CIBER-EHD, Hospital Universitari i Politècnic La Fe, 46026 Valencia, Spain
4
Department of Medicine, Universitat de València, 46010 Valencia, Spain
5
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, CIBERehd, Instituto de Salud Carlos III, 28029 Madrid, Spain
*
Author to whom correspondence should be addressed.
These authors have contributed equally.
Academic Editor: Marica Meroni
Biomedicines 2021, 9(9), 1100; https://doi.org/10.3390/biomedicines9091100
Received: 6 July 2021 / Revised: 20 August 2021 / Accepted: 25 August 2021 / Published: 28 August 2021
Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has a specific treatment, so that early diagnosis is crucial to avoid disease progression and its devastating consequences. The clinical diagnosis is based on the Leipzig score, which considers clinical, histological, biochemical, and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score may harbor other conditions that mimic the WD’s phenotype (Wilson-like). Many patients are diagnosed using current available methods, but others remain in an uncertain area because of bordering ceruloplasmin levels, inconclusive genetic findings and unclear phenotypes. Currently, the available biomarkers for WD are ceruloplasmin and copper in the liver or in 24 h urine, but they are not solid enough. Therefore, the characterization of biomarkers that allow us to anticipate the evolution of the disease and the monitoring of new drugs is essential to improve its diagnosis and prognosis. View Full-Text
Keywords: Wilson’s disease; Leipzig scale; ATP7B gene; Wilson-like; genetic modifiers; biomarkers Wilson’s disease; Leipzig scale; ATP7B gene; Wilson-like; genetic modifiers; biomarkers
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MDPI and ACS Style

Sánchez-Monteagudo, A.; Ripollés, E.; Berenguer, M.; Espinós, C. Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease. Biomedicines 2021, 9, 1100. https://doi.org/10.3390/biomedicines9091100

AMA Style

Sánchez-Monteagudo A, Ripollés E, Berenguer M, Espinós C. Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease. Biomedicines. 2021; 9(9):1100. https://doi.org/10.3390/biomedicines9091100

Chicago/Turabian Style

Sánchez-Monteagudo, Ana, Edna Ripollés, Marina Berenguer, and Carmen Espinós. 2021. "Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease" Biomedicines 9, no. 9: 1100. https://doi.org/10.3390/biomedicines9091100

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