Relative exchangeable copper, a high-quality biomarker for differentiation of Traditional Chinese Medicine syndrome in Wilson's disease.

Ding Yufeng, Yang Wenming, Cheng Yuan, Yang Yulong, Zhu Jun, L U Yachun, Fang Xiang, Zhang Jing
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Abstract

Objective: To investigate the value of relative exchangeable copper (REC) in diagnosing Wilson's disease (WD) and to determine its significance in the differentiation of Traditional Chinese Medicine (TCM) syndrome.

Methods: A total of 78 patients with WD were recruited on the same day of the medical visit, and among them, 32 were suffering from non-WD (N-WD) and 37 were heterozygous ATP7B carriers (HC) enrolled as controls. Molecular genetic testing was performed for diagnosing WD and HC. Additionally, REC levels in different TCM syndromes were investigated. The correlation between REC and serum ceruloplasmin (Cp), serum copper oxidase (CO), and 24-h urinary copper was analyzed using the Global Assessment Scale and Unified Wilson's Disease Rating Scale and the significance of REC in WD diagnosis was investigated. Resting-state functional magnetic resonance imaging was used to assess the clinical symptoms of WD and analyze its severity in different TCM syndromes.

Results: REC determination helped in significantly distinguishing patients with N-WD or HC from those with WD with a cut-off of 21.15%. Furthermore, the comparative analysis of REC ratios among different TCM syndromes showed markedly high REC levels in the dampness-heat internal accumulation syndrome group. Additionally, the seed-based functional connectivity value from the putamen to the cerebellum was significantly correlated with TCM syndromes.

Conclusion: REC level is a high-quality biomarker for diagnosing WD that effectively reflects disease severity and plays an essential role in deciding on treatment strategies and prognosis. Furthermore, REC levels are closely related to TCM syndromes in WD; thus, it is a potential objective quantitative indicator for distinguishing TCM syndromes in WD.

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相对可交换铜--区分威尔森氏病中医综合征的优质生物标志物
目的研究相对可交换铜(REC)在诊断威尔逊氏病(WD)中的价值,并确定其在中医证候鉴别中的意义:方法:在就诊当日共招募 78 名威尔森氏病患者,其中 32 名为非威尔森氏病患者(N-WD),37 名为杂合子 ATP7B 携带者(HC)作为对照。对 WD 和 HC 的诊断进行了分子基因检测。此外,还调查了不同中医综合征中的 REC 水平。使用全球评估量表和统一威尔逊氏病评分量表分析了REC与血清脑磷脂(Cp)、血清铜氧化酶(CO)和24小时尿铜之间的相关性,并研究了REC在WD诊断中的意义。静息态功能磁共振成像用于评估WD的临床症状,并分析其在不同中医综合征中的严重程度:结果:REC测定有助于明显区分N-WD或HC患者与WD患者,其临界值为21.15%。此外,不同中医综合征的 REC 比率比较分析显示,湿热内蕴证组的 REC 水平明显较高。此外,基于种子选手的功能连接值(从推拿门到小脑)与中医综合征显著相关:结论:REC水平是诊断WD的高质量生物标志物,能有效反映疾病的严重程度,并在决定治疗策略和预后方面发挥重要作用。此外,REC水平与WD的中医综合征密切相关,因此,它是区分WD中医综合征的一个潜在的客观量化指标。
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