Clinical features and ATP7B gene testing results of hepatolenticular degeneration： An analysis of four cases
10.19845/j.cnki.zfysjjbzz.2026.0024
- VernacularTitle:肝豆状核变性4例临床特征及ATP7B基因检测结果分析
- Author:
Ran MIAO
1
;
Yuming HUANG
1
Author Information
1. Department of Neurology，Beijing Ditan Hospital， Capital Medical University， Beijing 100015， China
- Publication Type:Journal Article
- Keywords:
Hepatolenticular degeneration;
Clinical features;
ATP7B gene;
Heterozygous mutation
- From:
Journal of Apoplexy and Nervous Diseases
2026;43(2):135-139
- CountryChina
- Language:Chinese
-
Abstract:
Hepatolenticular degeneration （HLD） is an autosomal recessive genetic disorder characterized by copper metabolism impairment， and it is one of the few treatable neurogenetic diseases. A retrospective analysis was performed for the clinical data of four patients with HLD who attended Beijing Ditan Hospital， Capital Medical University， from November 2023 to October 2024， and the genetic testing results of three patients were analyzed， along with a literature review. Among the four patients， there was one female patient and three male patients. All patients had the initial symptoms of dysarthria and limb tremors， and physical examination showed positive K-F rings， normal liver enzyme levels， a reduction in serum ceruloplasmin， and an increase in 24-hour urinary copper excretion. Three patients underwent ATP7B genetic testing， among whom two had compound heterozygous mutations， and one had a heterozygous mutation. In addition， two patients underwent cranial magnetic resonance imaging， and the results showed symmetrical long T1 and long T2 signals. All four patients received copper-chelating therapy and achieved a good outcome. This article reports the diagnosis and treatment of four patients with HLD and identifies a case of HLD resulting from a rare heterozygous mutation site， thereby expanding the variation spectrum of the ATP7B gene.
