Advance in diagnostic indicators of hepatolenticular degeneration
10.3760/cma.j.issn.1673-4408.2021.11.006
- VernacularTitle:肝豆状核变性诊断指标的研究进展
- Author:
Xiaohui FU
1
;
Shuli CHEN
Author Information
1. 中国医科大学深圳市儿童医院遗传代谢科 518038
- Keywords:
Wilson disease;
Ceruloplasmin;
Diagnosis index
- From:
International Journal of Pediatrics
2021;48(11):745-749
- CountryChina
- Language:Chinese
-
Abstract:
Hepatolenticular degeneration, also known as Wilson disease(WD), is an autosomal recessive disease with copper excretion disorder caused by ATP7B gene mutation.At present, the global incidence of hepatolenticular degeneration is about 1/30 000, but the frequency of ATP7B gene mutation is about 1/90.WD mainly manifests clinically as acute and chronic liver disease, neurological damage and renal impairment, etc.It is a genetic disease that can be well controlled by early diagnosis and treatment, so early diagnosis and treatment are important.However, because of its complex genotype and phenotype, it is easy to be misdiagnosed and delayed treatment.There is no single diagnostic standard for diagnosis of WD at the moment.The Leipzig diagnostic scoring system is often used for diagnosis.In recent years, there has been a new supplement to the diagnostic methods of WD.Some studies have confirmed that measuring the concentration of ATP7B protein by using ATP7B peptide can be used as a new diagnostic method for hepatolenticular degeneration, which is helpful for early accurate diagnosis.
