Wilson disease

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F18%3A10378662" target="_blank" >RIV/00064165:_____/18:10378662 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/18:10378662
Result on the web
<a href="http://dx.doi.org/10.1038/s41572-018-0018-3" target="_blank" >http://dx.doi.org/10.1038/s41572-018-0018-3</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41572-018-0018-3" target="_blank" >10.1038/s41572-018-0018-3</a>

Result language
angličtina
Original language name
Wilson disease
Original language description
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs. The clinical course of WD can vary in the type and severity of symptoms, but progressive liver disease is a common feature. Patients can also present with neurological disorders and psychiatric symptoms. WD is diagnosed using diagnostic algorithms that incorporate clinical symptoms and signs, measures of copper metabolism and DNA analysis of ATP7B. Available treatments include chelation therapy and zinc salts, which reverse copper overload by different mechanisms. Additionally, liver transplantation is indicated in selected cases. New agents, such as tetrathiomolybdate salts, are currently being investigated in clinical trials, and genetic therapies are being tested in animal models. With early diagnosis and treatment, the prognosis is good; however, an important issue is diagnosing patients before the onset of serious symptoms. Advances in screening for WD may therefore bring earlier diagnosis and improvements for patients with WD.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30103 - Neurosciences (including psychophysiology)

Project
<a href="/en/project/NV15-25602A" target="_blank" >NV15-25602A: Biomarkers of progression and treatment response in neurodegenerative disorders</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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