John Libbey Eurotext

Hépato-Gastro & Oncologie Digestive

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Wilson's disease: Ten essential keys to optimize the care of patients Volume 27, issue 10, Décembre 2020

Figures

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Tables

Authors
1 CHU de Lyon, Hôpital Femme-Mère-Enfant, Service de gastro-entérologie, hépatologie et nutrition pédiatriques, 69677 Bron
2 CHU Paris-GH Saint-Louis Lariboisière Fernand Widal, Hôpital Lariboisière, Laboratoire de toxicologie biologique, 75010 Paris
3 CHU Paris-Sud-Hôpital de Bicêtre, Service d’hépatologie et de transplantation hépatique pédiatriques, 94270 Le Kremlin-Bicêtre
4 CHU de Lyon, Service de gastro-entérologie, hépatologie adultes, 69677 Bron
5 CHU de Toulouse, Unité Neurologie cognitive, épilepsie, sommeil et mouvements anormaux, 31059 Toulouse
6 Hôpital Fondation Adolphe de Rothschild, Service de neurologie, 75019 Paris
7 Hôpital Paul Brousse, Centre hépato-biliaire, Unité d’hospitalisation hépatologie Fred Siguier, 94800 Villejuif
8 CHRU de Besançon, Hôpital Jean Minjoz, Service d’hépatologie, 25000 Besançon
9 CHU Paris-GH St-Louis Lariboisière Fernand Widal, Hôpital Lariboisière, Service de neurologie, 75010 Paris
* Correspondance

In France, the number of patients with Wilson's disease is estimated between 1,000 and 1,500. It is a monogenic disorder of autosomal recessive transmission whose gene is located on chromosome 13. Wilson's disease is linked to an accumulation of copper in the liver and then progresses to a systemic disorder. The first symptoms are most often hepatic in children and neuro psychiatric and hepatic in adults. The diagnosis can be made at any age and screening must be carried out in the whole family. Once the diagnosis has been mentioned, the copper balance and in particular the study of the ratio of exchangeable copper/total copper (REC) (rapid and sensitive test) allows, as a rule, confirmation of the diagnosis, while at the same time highlighting mutations by molecular biology in 98% of cases. Finally, the new trientine salt treatments make it possible to adapt the treatment as closely as possible to the needs of the patients.