Pathogenic mechanism and clinical diagnosis of hereditary abnormal copper metabolism
10.3969/j.issn.1001-5256.2019.08.003
- VernacularTitle:遗传性铜代谢异常的致病机制及临床诊断
- Author:
Shuru CHEN
1
;
Yutian CHONG
;
Xinhua LI
Author Information
1. Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510630, China
- Publication Type:Research Article
- Keywords:
liver diseases;
metal metabolism, inborn errors;
copper;
diagnosis
- From:
Journal of Clinical Hepatology
2019;35(8):1667-1672
- CountryChina
- Language:Chinese
-
Abstract:
Copper is an important trace element in the human body, and copper deficiency or overload can lead to a series of body dysfunctions. This review focuses on hepatolenticular degeneration and related diseases of abnormal copper metabolism. Hepatolenticular degeneration has various clinical phenotypes, and related diseases, such as cholestatic liver disease, hereditary ceruloplasmin deficiency, and congenital abnormal glycosylation, may bring confusion to the clinical diagnosis of hepatolenticular degeneration. With reference to the latest research advances and experience in the diagnosis and treatment of hepatolenticular degeneration, this article discusses the pathogenic mechanism and clinical diagnosis of hereditary abnormal copper metabolism from the perspective of liver diseases.
