Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism

被引:0
作者
Loudianos, Georgios [1 ]
Incollu, Simona [2 ]
Mameli, Eva [2 ]
Lepori, Maria B. [2 ]
机构
[1] Osped Reg Microcitemie, Cagliari, Italy
[2] Univ Cagliari, Dipartimento Sanita Pubbl Med Clin & Mol, Cagliari, Italy
来源
ANNALS OF GASTROENTEROLOGY | 2016年 / 29卷 / 01期
关键词
Wilson's disease; asymptomatic; diagnosis; ATP7B mutation;
D O I
暂无
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
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. This 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.
引用
收藏
页码:96 / 98
页数:3
相关论文
共 10 条
[1]   Genetic Modifiers of Liver Injury in Hereditary Liver Disease [J].
Ala, Aftab ;
Schilsky, Michael .
SEMINARS IN LIVER DISEASE, 2011, 31 (02) :208-214
[2]   Late onset Wilson's disease: Therapeutic implications [J].
Czlonkowska, Anna ;
Rodo, Maria ;
Gromadzka, Grayna .
MOVEMENT DISORDERS, 2008, 23 (06) :897-899
[3]   Monozygotic Female Twins Discordant for Phenotype of Wilson's Disease [J].
Czlonkowska, Anna ;
Gromadzka, Grazyna ;
Chabik, Grzegorz .
MOVEMENT DISORDERS, 2009, 24 (07) :1066-1069
[4]   Neurological Wilson's disease lethal for the son, asymptomatic in the father [J].
Denoyer, Yves ;
Woimant, France ;
Bost, Muriel ;
Edan, Gilles ;
Drapier, Sophie .
MOVEMENT DISORDERS, 2013, 28 (03) :402-403
[5]   Diagnosis and phenotypic classification of Wilson disease [J].
Ferenci, P ;
Caca, K ;
Loudianos, G ;
Mieli-Vergani, G ;
Tanner, S ;
Sternlieb, I ;
Schilsky, M ;
Cox, D ;
Berr, F .
LIVER INTERNATIONAL, 2003, 23 (03) :139-142
[6]   Whom and how to screen for Wilson disease [J].
Ferenci, Peter .
EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY, 2014, 8 (05) :513-520
[7]  
Ferenci P, 2012, J HEPATOL, V56, P671, DOI 10.1016/j.jhep.2011.11.007
[8]   Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis [J].
Lepori, Maria-Barbara ;
Zappu, Antonietta ;
Incollu, Simona ;
Dessi, Valentina ;
Mameli, Eva ;
Demelia, Luigi ;
Nurchi, Anna Maria ;
Gheorghe, Liana ;
Maggiore, Giuseppe ;
Sciveres, Marco ;
Leuzzi, Vincenzo ;
Indolfi, Giuseppe ;
Bonafe, Luisa ;
Casali, Carlo ;
Angeli, Paolo ;
Barone, Patrizia ;
Cao, Antonio ;
Loudianos, Georgios .
MOLECULAR AND CELLULAR PROBES, 2012, 26 (04) :147-150
[9]   Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease [J].
Vrabelova, S ;
Letocha, O ;
Borsky, M ;
Kozak, L .
MOLECULAR GENETICS AND METABOLISM, 2005, 86 (1-2) :277-285
[10]  
Zappu A, 2008, J PEDIATR GASTR NUTR, V47, P334, DOI 10.1097/MPG.0b013e31817094f6