Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.

ABSTRACT: 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 method

SUBMITTER: Sanchez-Monteagudo A 

PROVIDER: S-EPMC8471362 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature