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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/11:6942 RIV/00064203:_____/11:6942 RIV/00216208:11110/11:9741 RIV/61383082:_____/11:0072

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

CE - Biochemie

OECD FORD obor

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Projekt

<a href="/cs/project/NR9406" target="_blank" >NR9406: Úloha oxidačního stresu a genetických faktorů v rozvoji jaterního postižení při Wilsonově chorobě.</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2011

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Liver International

ISSN

1478-3223

e-ISSN

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Svazek periodika

31

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

DK - Dánské království

Počet stran výsledku

9

Strana od-do

83-91

Kód UT WoS článku

000285011000011

EID výsledku v databázi Scopus

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