La maladie de Wilson: un caméléon clinique auquel il faut penser [A primer on Wilson disease for the general practitioner].

Details

Serval ID
serval:BIB_5B9F5CA16A8E
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
La maladie de Wilson: un caméléon clinique auquel il faut penser [A primer on Wilson disease for the general practitioner].
Journal
Revue Médicale Suisse
Author(s)
Hiroz P., Antonino A., Doerig C., Pache I., Moradpour D.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
2011
Volume
7
Number
307
Pages
1690-1695
Language
french
Notes
Publication types: English Abstract ; Journal ArticlePublication Status: ppublish
Abstract
Wilson disease (WD) is an inherited disorder of hepatic copper excretion leading to toxic accumulation of copper in the liver as well as the brain, cornea, and other organs. The defect is due to mutations of the copper-transporting ATPase ATP7B. Clinical manifestations are highly variable and comprise acute liver failure, chronic hepatitis and cirrhosis as well as neurological or psychiatric symptoms. The Kayser-Fleischer corneal ring is pathognomonic but absent in about 50% of patients with hepatic manifestations alone. A high index of suspicion in clinically compatible situations is key, with a combination of laboratory tests allowing the diagnosis of WD. Treatment is based on the use of chelating agents, D-penicillamine or trientine. Liver transplantation should be considered for patients with acute liver failure or advanced cirrhosis.
Keywords
Adenosine Triphosphatases/genetics, Biopsy, Fine-Needle, Cation Transport Proteins/genetics, Hepatolenticular Degeneration/diagnosis, Hepatolenticular Degeneration/genetics, Humans, Liver/pathology, Mutation
Pubmed
Create date
12/01/2012 19:00
Last modification date
20/08/2019 14:14
Usage data