[A primer on Wilson disease for the general practitioner]. / La maladie de Wilson: un caméléon clinique auquel il faut penser.
Rev Med Suisse
; 7(307): 1690-2, 1694-5, 2011 Sep 07.
Article
em Fr
| MEDLINE
| ID: mdl-21987877
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.
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Base de dados:
MEDLINE
Assunto principal:
Degeneração Hepatolenticular
Limite:
Humans
Idioma:
Fr
Ano de publicação:
2011
Tipo de documento:
Article