Work

Familial screening in Wilson’s disease: Think at the previous generation!

Year: 2012

Type: article

Abstract: Wilson’s disease (WD) is an autosomal recessive disease caused by mutations in the ATP7B gene, resulting in accumulation of copper in various organs including liver, cornea, and brain [1]. AADSL and EASL Guidelines have been published to help physicians in diagnosis and treatment [2,3]. We report diagnosis of WD in a 43-year-old asymptomatic father after his daughter had presented with a typical hepatic WD, and want to focus on recommendations about familial screening.

Source: Journal of Hepatology

DOI: 10.1016/j.jhep.2012.07.011

Authors: Anne-Sophie Brunet, Stéphanie Marotte, Olivier Guillaud, Alain Lachaux

Institutions: Lyon 1 Université, Hôpital Femme Mère Enfant

Language: English

Topic: Trace Elements in Health

Subfield: Nutrition and Dietetics

Field: Nursing

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $5,500