血清铜蓝蛋白检测在肝豆状核变性及其携带者中的临床意义

目的肝豆状核变性(hepatolenticular degeneration)又称为Wilson病(Wilson’s disease,WD)。目前对于铜蓝蛋白在WD、WD携带者及病毒性肝炎的诊断价值尚不一致。文中探讨检测血清铜蓝蛋白在WD、WD携带者和病毒性肝炎中的临床意义,研究WD携带者的临床表现和铜代谢规律。方法确诊的WD患者60例,WD携带者30例,合并病毒性肝炎的WD携带者2例,病毒性肝炎患者20例,健康对照者20例。对所有入组者进行病史采集、临床神经系统检查,检测血清铜蓝蛋白水平以及铜代谢指标检查,包括脑脊液铜、血清铜、青霉胺排铜试验前后24 h尿铜。同时进行神经影像学、腹部B超、肝功能、肝炎标志物检查。结果 WD患者铜蓝蛋白水平低于健康人,排铜试验后尿铜显著高于健康人。WD携带者铜蓝蛋白异常者高达73%,其铜蓝蛋白水平介于健康人和WD患者之间。合并病毒性肝炎的WD携带者铜蓝蛋白水平低于0.1 g/L且随肝功能波动,其尿铜略高于健康人,排铜试验后尿铜高于健康人。单纯病毒性肝炎患者铜蓝蛋白水平仅轻度降低。结论血清铜蓝蛋白水平有助于鉴别WD、WD携带者和其他肝病。病毒性肝炎多导致铜蓝蛋白水平轻度异常;WD携带者合并病毒性肝炎时,铜蓝蛋白水平显著下降。WD携带者的铜蓝蛋白水平常介于健康人和WD患者之间,可作为WD携带者的诊断依据。WD携带者存在轻微铜代谢异常,但无临床症状,不需进行排铜治疗。

Clinical significance of serum ceruloplasmin in Wilson disease and Wilson disease carriers

Objective There is not yet a consensus of opinions regarding the value of ceruloplasmin detection in the diagnosis of Wilson disease(WD),WD carriers and viral hepatitis.This study was to investigate the clinical significance of detecting the level of ceruloplasmin for WD,WD carriers and viral hepatitis,and to explore the clinical manifestation of WD and characteristics of copper metabolism in WD carriers.Methods We enrolled in this study 20 WD patients,30 WD carriers(parents of the WD patients),2 WD carriers with viral hepatitis,20 patients with viral hepatitis only,and 20 healthy controls.All the subjects underwent examination of neural symptoms,determination of the levels of ceruloplasmin,cerebrospinal fluid copper,serum copper,and 24h urine copper before and after copper-discharging treatment,as well as evaluation of the brain images,abdominal ultrasonography,liver function and coagulation function.Results Compared with the healthy controls,the WD patients showed a lower level of ceruloplasmin,and a significantly higher level of urine copper after the copper-discharging test.The WD carriers with abnormal ceruloplasmin accounted for 73%.The ceruloplasmin level of the WD carriers was a median between that of the healthy controls and that of the WD patients.The WD carriers with viral hepatitis exhibited a ceruloplasmin level lower than 0.1 g/L and changing with the hepatic function,their urine copper level slightly increased as compared with that of the healthy controls and obviously higher than theirs after copper discharging.A mild reduction was observed in the level of ceruloplasmin in those with viral hepatitis only.Conclusion Detection of ceruloplasmin helps to distinguish WD,WD carriers and viral hepatitis.The level of ceruloplasmin is slightly decreased in viral hepatitis,significantly reduced in WD carriers with viral hepatitis,and median between that of WD and that of healthy population in WD carriers.It can be used as a good marker for the diagnosis of the WD carrier,in whom there is a slight abnormality of copper metabolism,with no clinical symptoms and no need of copper-discharging treatment.