Department of Neurology, the First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei 230031, China.
Department of clinical laboratory, the First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei 230031, China.
J Tradit Chin Med. 2024 Oct;44(5):1017-1023. doi: 10.19852/j.cnki.jtcm.20240828.007.
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.
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.
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.
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.
探讨相对可交换铜（REC）在诊断 Wilson 病（WD）中的价值，并确定其在中医（TCM）辨证中的意义。
在就诊当天共招募了 78 例 WD 患者，其中 32 例为非 WD（N-WD），37 例为杂合子 ATP7B 携带者（HC）作为对照。采用分子遗传学检测诊断 WD 和 HC。此外，研究了不同 TCM 证型的 REC 水平。采用全球评估量表和统一 Wilson 病评分量表分析 REC 与血清铜蓝蛋白（Cp）、血清铜氧化酶（CO）和 24 小时尿铜的相关性，探讨 REC 在 WD 诊断中的意义。采用静息态功能磁共振成像评估 WD 的临床症状，并分析不同 TCM 证型的严重程度。
REC 测定有助于显著区分 N-WD 或 HC 患者与 WD 患者，截断值为 21.15%。此外，不同 TCM 证型 REC 比值的比较分析显示，湿热内蕴证组 REC 水平明显升高。此外，纹状体到小脑的基于种子的功能连接值与 TCM 证型显著相关。
REC 水平是诊断 WD 的高质量生物标志物，能有效反映疾病严重程度，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 中的 TCM 证型密切相关，因此是 WD 中医辨证的潜在客观定量指标。
