Wilson Disease in Children.
Clin Liver Dis
; 26(3): 473-488, 2022 08.
Article
en En
| MEDLINE
| ID: mdl-35868686
ABSTRACT
The silver anniversary of the discovery of the Wilson disease gene ATP7B was a couple of years ago, and we continue to make progress both in our understanding of copper transportation using animal models as well as earlier diagnosis by availing of genetic testing. Wilson disease is multisystemic and the hepatic manifestations are seen more frequently in childhood, whereas neurologic manifestations are more common in adults; presentation may range from subtle changes to end-stage liver disease with or without encephalopathy as well as neuropsychiatric manifestations. Treatment remains with zinc and chelating agents such as D-penicillamine and trientine but newer agents and gene therapy are in clinical trials. Liver transplantation becomes necessary when medical therapy is not enough. Molecular diagnosis and genetic counseling is important.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Degeneración Hepatolenticular
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Clin Liver Dis
Asunto de la revista:
GASTROENTEROLOGIA
Año:
2022
Tipo del documento:
Article