A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.

Autores de CIPF
Participantes ajenos a CIPF
- Penning LC
- Berenguer M
- Czlonkowska A
- Double KL
- Dusek P
- Lutsenko S
- Medici V
- Papenthin W
- Stremmel W
- Willemse J
- Weiskirchen R
Grupos de Investigación
Abstract
Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result in copper accumulation in hepatocytes and/or neurons, but clinical diagnosis remains challenging. Diagnosis is complicated by mild, non-specific presentations, mutations exerting no clear effect on protein function, and inconclusive laboratory tests, particularly regarding serum ceruloplasmin levels. As early diagnosis and effective treatment are crucial to prevent progressive damage, we report here on the establishment of a global collaboration of researchers, clinicians, and patient advocacy groups to identify and address the outstanding challenges posed by WD.
Datos de la publicación
- ISSN/ISSNe:
- 2227-9059, 2227-9059
- Tipo:
- Article
- Páginas:
- -
- PubMed:
- 36830958
Biomedicines MDPI AG
Citas Recibidas en Web of Science: 9
Documentos
- No hay documentos
Filiaciones
Keywords
- Wilson disease, copper accumulation, hepatic disfunction, neurological disfunction, patients’ involvement, psychiatric disorders
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