血清铜及血清游离铜对肝豆状核变性的诊断价值

目的： 探讨血清铜和血清游离铜对肝豆状核变性的诊断价值，为肝豆状核变性的诊断提供依据。方法：分别采用免疫散射比浊法和原子吸收光谱法检测8例暴发型肝豆状核变性、49例普通型肝豆状核变性、87例病毒性肝炎（慢性肝炎22例、重型肝炎46例、肝硬化19例）和57例其他肝病患者的血清铜蓝蛋白和血清铜，并根据血清铜和铜蓝蛋白计算出血清游离铜。结果：①暴发型肝豆状核变性患者血清铜 ［（105.0±29.4） μg•dL^-1］高于普通型肝豆状核变性［（28.1±14.9） μg•dL^-1］和重型肝炎患者［（70.5±41.7） μg•dL^-1］（P<0.05）；普通型肝豆状核变性患者血清铜均低于正常，与其他各组比较差异有显著性（P<0.01）；血清铜诊断肝豆状核变性敏感度为86.0%，特异度为47.2%。②暴发型肝豆状核变性患者血清游离铜平均为（62.3±27.7） μg•dL^-1，最高达113 μg•dL^-1，明显高于其他各组（P<0.01）。普通型肝豆状核变性的血清游离铜平均为（10.2±9.3） μg•dL^-1，高于其他肝病组（P<0.01），血清游离铜诊断肝豆状核变性的敏感度为59.6%，特异度为100%。 结论： 血清铜和血清游离铜对肝豆状核变性的诊断有一定的参考价值，而血清游离铜可作为诊断暴发型肝豆状核变性的指标。

Diagnostic value of serum copper and non-ceruloplasmin-bound copper determination in patients with Wilson disease

Objective To investigate the diagnostic value of serum copper and non-ceruloplasmin-bound copper determination in patients with Wilson disease(WD).Methods Ceruloplasmin level was measured by scattering immunoturbidimetric assay and serum copper concentration by flame atomic absorption spectroscopy at the diagnosis of patients with fulminant Wilson disease(FWD,8),non-fulminant Wilson disease(NFWD,49),viral hepatitis(chronic hepatitis 22,severe hepatitis 46,Cirrhosis 19),and other liver diseases(57).Results ①The average serum copper concentration of patients with FWD was(105.0±29.4) μg·dL-1,which was significantly higher than that of patients with NFWD(28.1 μg·dL-1±14.9 μg·dL-1) and severe hepatitis(70.5 μg·dL-1±41.7 μg·dL-1)(P<0.05).The serum copper concentration of patients with NFWD was lower than the upper limit of normal,which was significantly lower than those in other groups(P<0.01).The sensitivity of serum copper concentration was 86.0% for the diagnosis of WD,and the specificity was 47.2%.② The average serum non-ceruloplasmin-bound copper concentration of patients with FWD was(62.3±27.7) μg·dL-1 with maximum 113 μg·dL-1,which was significantly higher than those of other groups(P<0.01).The average serum non-ceruloplasmin-bound copper concentration of patients with NFWD was(10.2±9.3) μg·dL-1,which was significantly higher than those of patients with other liver diseases(P<0.01).The sensitivity of serum non-ceruloplasmin-bound copper concentration was 59.6% for the diagnosis of WD with specificity 100%.Conclusion The concentrations of serum copper and serum non-ceruloplamin-bound copper are valuable in the diagnosis of WD,and the serum non-ceruloplamin-bound copper is a very useful parameter for the diagnosis and prognosis of FWD.