Wilson's disease: clinical study and molecular biology

Wilson disease is an autosomal recessive disorder of copper transport that causes hepatic and/or neurological disease resulting from copper accumulation in the liver and brain. The protein defective in this disorder is a putative copper-transporting P-type ATPase, ATP7B. More than 300 mutations have been identified in the ATP7B gene of patients with Wilson disease. This work reported an observation of a case of Wilson disease in young girl a ten-years-old born of a consanguineous marriage of the first degree. This young girl was hospitalized on 4 January 2003 in paediatric of the child hospital, CHU Ibn Rochd of Casablanca for a syndrome œdemato-ascitic with collateral circulation. Biological investigation and the sequencing of all exons of ATP7B gene were carried out. We have noted a hypoceruloplasminemy (0.03 g/l), a cupremy (18 μg/100 ml) and a high cuprurie (356 μg/24 h). The sequencing of the 21 exons ATP7B gene showed the absence of the mutations. © 2007 Elsevier Masson SAS. All rights reserved.