Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 35940888.
- Also identified by DOI 10.1212/WNL.0000000000200836 and PMC identifier 9442620.
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Abstract
Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the <i>ATP7B</i> gene, which are inherited in an autosomal recessive pattern. Despite all the advances made on pathogenesis, cellular biology, and genetics, to date, WD remains a diagnostic and therapeutic challenge. With this series of cases, we aim to illustrate the main challenges that clinicians may encounter when dealing with patients with WD: the difficulties with clinical diagnosis, the therapeutic management of WD and the indication for advanced therapies, management during pregnancy, and genotype-phenotype correlations.
Medical subject headings
- Hepatolenticular Degeneration