title: [Wilson's disease: Clinical presentations].
abstract: Wilson's disease is a rare genetic condition, transmitted on a recessive autosomal mode, which involves a disturbance of copper metabolism. Its prevalence is 1: 30000. It is treatable but may be lethal if not managed early and treated adequately. It is caused by the loss of function of an adenosine triphosphatase (ATP 7B), which is due to a mutation in the ATP 7B gene on chromosome 13. This leads to a decrease or absence of copper transport to the bile and its accumulation within certain organs, particularly the liver and the brain. In this article we present two cases of Wilson's disease in two young male patients. We also briefly review the pathophysiology of the illness, discuss the latest guidelines for diagnosis and treatment and outline the recent genetic discoveries.
authors.affiliation: Service de médecine communautaire, Département de médecine Communautaire, Genève. caroline.chilcott@hcuge.ch
authors.forename: C
authors.initials: C
authors.lastname: Chilcott-Lauber
authors.forename: P R
authors.initials: PR
authors.lastname: Burkhard
authors.forename: E
authors.initials: E
authors.lastname: Giostra
mesh_terms: D000328:Adult; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008297:Male