Research advances in the pathogenesis, phenotype-genotype relationship, and pharmacotherapy of hepatolenticular degeneration
10.3969/j.issn.1001-5256.2023.06.037
- VernacularTitle:肝豆状核变性发病机制、临床表型-基因型关系及药物治疗研究进展
- Author:
Aierkenjiang MALIPATI
1
;
Kuerban KAIDIRIYA
1
;
Ling XU
1
;
Xiaofeng SUN
1
Author Information
1. Department of Infectious Diseases, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China
- Publication Type:Review
- Keywords:
Hepatolenticular Degeneration;
Genotype;
Drug Therapy
- From:
Journal of Clinical Hepatology
2023;39(6):1497-1504
- CountryChina
- Language:Chinese
-
Abstract:
In hepatolenticular degeneration, also known as Wilson's disease (WD), the binding of copper to ceruloplasmin is impaired, resulting in the deposition of free copper mainly in the liver, brain, and other organs. The prevalence rate of WD was 1/30 000. In clinical practice, most WD patients are young adults and are characterized by extrapyramidal symptoms, liver cirrhosis, Kayser-Fleischer ring of the cornea, low serum ceruloplasmin level (< 50 mg/L), and high 24-hour urinary copper excretion (> 100 mg/L). At present, pharmacotherapy is the main treatment method for WD, and in some cases of end-stage liver disease or acute liver failure, liver transplantation is an option to improve survival rate. This article reviews the research advances in the pathogenesis of hepatolenticular degeneration, phenotype-genotype relationship, and pharmacotherapy in China and globally.
