[Wilson disease].
Wilson Disease must be considered in very varied circumstances, including in patients older than 50 years. Its diagnosis is not based on a single test but on a group of findings. The copper levels may be difficult to interpret. Molecular biology can confirm the diagnosis in only 80% of cases. The advice of the reference center is necessary before beginning treatment: chelators or zinc salts. Lifetime treatment is required. Follow-up of these patients must be regular and multidisciplinary and should be conducted in association with the reference center. Inclusion in the national registry for Wilson Disease must be suggested to all patients.


BACKGROUND
cmr.wilson@lrb.aphp.fr.
Trocello
Jean-Marc
JM
Centre National de Référence pour la Maladie de Wilson, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, F-75010 Paris, France.
Chappuis
Philippe
P
Chaine
Pascal
P
Rémy
Pascal
P
Debray
Dominique
D
Duclos-Vallée
Jean-Charles
JC
Woimant
France
F
D000251:Adenosine Triphosphatases / Q000235:genetics; D001921:Brain / Q000473:pathology; D027682:Cation Transport Proteins / Q000235:genetics; D002614:Chelating Agents / Q000627:therapeutic use; D003300:Copper / Q000378:metabolism; D000079922:Copper Transport Proteins; D000073840:Copper-Transporting ATPases; D030881:Disclosure; D022781:Hepatocytes / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007501:Iron / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D056511:Metallochaperones; D018832:Molecular Chaperones / Q000235:genetics; D008991:Monitoring, Physiologic; D010348:Patient Care Team; D010396:Penicillamine / Q000627:therapeutic use; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics; D012042:Registries; D015032:Zinc / Q000627:therapeutic use
C474500:ATOX1 protein, human; D027682:Cation Transport Proteins; D002614:Chelating Agents; D000079922:Copper Transport Proteins; D056511:Metallochaperones; D018832:Molecular Chaperones; D012333:RNA, Messenger; D003300:Copper; D007501:Iron; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases; D010396:Penicillamine; D015032:Zinc