Laboratory diagnosis of inherited metabolic liver disease in children
10.3760/cma.j.issn.1009-9158.2019.03.003
- VernacularTitle:儿童遗传代谢性肝病的实验室诊断
- Author:
Siwei MAO
1
;
Qiuhui PAN
Author Information
1. 上海交通大学医学院附属上海儿童医学中心检验科 200127
- Keywords:
Liver diseases;
alpha 1-Antitrypsin deficiency;
Hepatolenticular degeneration;
Tyrosinemias;
Clinical laboratory techniques;
Child
- From:
Chinese Journal of Laboratory Medicine
2019;42(3):160-164
- CountryChina
- Language:Chinese
-
Abstract:
Children with inherited metabolic liver disease appear liver damage caused by metabolic disorders and accumulation of substrate or abnormal metabolite in liver due to genetic defects . Because of complex clinical manifestations and non-specificity of routine examination, its definite diagnosis depends on laboratory special examinations. Early treatment is closely related to the prognosis of children so that the importance of early diagnosis of inherited metabolic liver disease is emphasized. This article described the laboratory diagnosis of three common inherited metabolic liver diseases and screening for childhood with inherited metabolic liver disease.
