Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F11%3A9741" target="_blank" >RIV/00064165:_____/11:9741 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/11:6942 RIV/00064203:_____/11:6942 RIV/00216208:11110/11:9741 RIV/61383082:_____/11:0072
Result on the web
<a href="http://dx.doi.org/10.1111/j.1478-3231.2010.02354.x" target="_blank" >http://dx.doi.org/10.1111/j.1478-3231.2010.02354.x</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation
Original language description
Background and aims: Wilson disease (WD) is an inherited disorder of copper metabolism. When treated, the outcome can be excellent, although the long-term survival has yet to be well documented. The aim of this study was to describe the long-term outcomeof a cohort of patients with WD and to assess those factors affecting the phenotypic manifestation of WD. Methods: The presence of mutations to the ATP7B gene, the clinical manifestations, treatments and the long-term outcomes were analysed retrospectively in 117 patients with WD (59 men and 58 women, aged at evaluation 38.5 +/- 11, range 16-63 years). Results: Fifty-five patients with a neurological presentation, 51 patients with a hepatic presentation and 11 asymptomatic patients were followed up foran average of 15.1 +/- 10 years (median 12 years, range 1-41 years). The H1069Q ATP7B gene mutation was the most frequent genetic variant (54.3%); the frequency of this mutation did not differ between patients with either the hepatic or
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
CE - Biochemistry
OECD FORD branch
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Project
<a href="/en/project/NR9406" target="_blank" >NR9406: The role of oxidative stress and genetic factors on the progress of liver impairment in patients with Wilson disease.</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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