血清铜及血清游离铜对肝豆状核变性患者及携带者的诊断及治疗监测意义

Values of serum copper and serum free copper in the diagnosis and monitoring of Wilson＇s disease and its carriers

目的研究血清铜和血清游离铜在肝豆状核变性（WD）、WD携带者、病毒性肝炎等疾病中的诊断价值。探讨监测血清铜对于WD患者排铜治疗过程中的指导意义。方法选取2007年7月至2011年1月住院治疗的WD初诊患者80例（脑型60例，肝型20例）、WD携带者30例，病毒性肝炎20例进行血清铜等铜代谢指标检查。WD患者接受二巯基丙磺钠治疗8个疗程，每疗程用改良Young量表进行神经症状评分，进行肝功能、出凝血功能、血清铜、尿铜等检查。患者出院后用锌剂维持治疗。结果进行Logistic回归分析、t检验和方差检验等统计学分析。结果WD患者、WD携带者、重型病毒性肝炎血清游离铜分别为0．17mg／L±0．04mg／L、0．13mg／L±0．03mg／L和0．12mg／L，高于正常。血清游离铜与肝功能等级相关，但与神经症状严重程度无关。排铜治疗过程中，神经症状改善不明显或加重者，血清铜升高；神经症状改善者，血清铜降低。长期排铜过程中，血清铜将稳定在0．2mg／L左右。结论血清铜和血清游离铜对WD有辅助诊断意义。肝型WD患者肝功能将影响血清铜水平。而脑型WD血清铜并不能直接反映神经症状严重程度。排铜治疗过程中，血清铜升高，提示预后不佳。在排铜治疗过程中，血清铜可作为监测治疗是否有效的指标，可作为排铜治疗目标。

Objective To explore the values of serum copper and serum free copper in the diagnosis of Wilson＇s disease （WD） , its carrier and viral hepatitis and explore the guiding significance of monitoring serum copper in the treatment of WD. Methods A total of 80 WD patients （ hepatic type, n = 60; encephalic type, n = 20 ）, 30 carriers, 20 patients with viral hepatitis were enrolled and their levels of serum copper were determined. The neural symptoms were scored by modified Young grade. Hemogram, hepatic functions, blood clotting functions, serum copper and urinary copper were tested throughout all 8 courses of treatment with sodium dimercaptopropane sulfonate （DMPS）. The patients were treated with zinc after discharging. All data were analyzed. Results The free serum copper increased in the patients with WD （0. 17 mg/L -＋0. 04 mg/L） ,carriers （0. 13 mg/L _＋0. 03 mg/L） and severe viral hepatitis （0. 12 mg/L）. A slight increase was also observed in the WD carriers. The level of serum copper was correlated with hepatic functions but not with the severity of neural symptoms. The serum copper increased in the patients with no improvement of neural symptoms. However, the serum copper decreased in the WD patients with the improvement of neural symptoms. The serum copper was stabilized at approximately 0. 2 mg/L during the long-term treatment period. Conclusion There is auxiliary diagnosis significance of serum copper in the determination of WD, Hepatic functions in hepatic type WD affect the level of serum copper. The serum copper of encephalie type WD can not indicate the severity of neural symptoms. The elevated level of serum copper indicates a poor prognosis. The serum copper is an effective marker in monitoring the development and therapeutic efficacy of the disease.