title: Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.
abstract: Diagnosis of Wilson's disease (WD) still remains a challenge since no single test has an accuracy of 100%. Molecular testing for ATP7B gene mutations can help reach the diagnosis when routine testing is equivocal. We herein report an asymptomatic WD patient diagnosed accidentally by genetic analysis. Th is case suggests that WD is a challenge even in particular contexts such as family screening. Genetic testing of ATP7B gene should be recommended in the family members of WD patients with minimal alterations of specific tests such as ceruloplasmin, and presence of steatosis or increased body mass index.
authors.affiliation: Ospedale Regionale per le Microcitemie (Georgios Loudianos).
authors.forename: Georgios
authors.initials: G
authors.lastname: Loudianos
authors.affiliation: Dipartimento di Sanità Pubblica Medicina Clinica e Molecolare, Università di Cagliari (Simona Incollu, Eva Mameli, Maria B. Lepori), Cagliari, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Incollu
authors.affiliation: Dipartimento di Sanità Pubblica Medicina Clinica e Molecolare, Università di Cagliari (Simona Incollu, Eva Mameli, Maria B. Lepori), Cagliari, Italy.
authors.forename: Eva
authors.initials: E
authors.lastname: Mameli
authors.affiliation: Dipartimento di Sanità Pubblica Medicina Clinica e Molecolare, Università di Cagliari (Simona Incollu, Eva Mameli, Maria B. Lepori), Cagliari, Italy.
authors.forename: Maria B
authors.initials: MB
authors.lastname: Lepori
keywords: ATP7B mutation; Wilson’s disease; asymptomatic; diagnosis