[Diagnosis and treatment of Wilson disease in Japan].
Rinsho Shinkeigaku
; 59(9): 565-569, 2019 Sep 25.
Article
in Ja
| MEDLINE
| ID: mdl-31474637
ABSTRACT
Wilson disease is an autosomal recessive disorder based on inborn error of copper metabolism. The copper accumulates in the liver, brain, cornea, kidney, and other organs. This disease should be considered any individual with liver abnormality except infant, any patient older than teenage with neurological (especially for extra pyramidal signs) or neuropsychiatric disorder with or without liver disease and sibling of Wilson disease patient. Typically, a combination of low serum ceruloplasmine levels and high levels of urinary copper contents is sufficient to establish a diagnosis. As other diagnostic tests, measurement of hepatic copper content and ATP7B gene analysis are available. The key strategy of treatment is to reduce the amount of copper in the liver and other tissues by administering both copper-chelating agents, such as D-penicillamine or Trientine, and/or zinc acetate. The author recommend zinc acetate monotherapy for mild to moderate hepatic disorder, Trientine mono therapy for mild to moderate neurologic disorder and combination therapy of Trientine and zinc acetate for sever hepatic or neurologic disorder.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Penicillamine
/
Trientine
/
Chelating Agents
/
Zinc Acetate
/
Hepatolenticular Degeneration
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Middle aged
Country/Region as subject:
Asia
Language:
Ja
Journal:
Rinsho Shinkeigaku
Year:
2019
Document type:
Article