Article
Wilson disease in offspring of affected patients: report of four French families.
Clinics and research in hepatology and gastroenterology - 1 Jun 2013
Dufernez Fabienne, Lachaux Alain, Chappuis Philippe, De Lumley Lionel, Bost Muriel, Woimant France, Misrahi Micheline, Debray Dominique
Abstract excerpt
BACKGROUND: Wilson disease (WD) is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene resulting in toxic accumulation of copper mainly in the liver and brain. Early treatment may prevent irreversible tissue damage. AIM: We report on four families with an occurrence of WD in two consecutive generations in order to highlight the need for screening offspring of affected parents. RESULTS:...
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