【摘要】 【目的】研究脑脊液和血清中烯醇化酶(NSE)在肝豆状核变性(WD)中的临床意义。【方法】选取WD初诊患者40例、正常对照20例,进行神经症状评分,测定脑脊液和血清NSE、脑脊液及血清铜,计算血脑屏障指数(AR值)。青霉胺治疗3个月后再次进行神经症状评分和上述指标的测定。【结果】WD患者脑脊液NSE含量低于对照组,脑脊液NSE含量低于血清。肝、脑型WD患者NSE无明显差异。脑脊液NSE含量与神经症状评分无相关性。脑脊液NSE与AR值呈负相关。青霉胺治疗后神经症状加重的患者脑脊液NSE量升高。脑脊液NSE是青霉胺治疗后是否出现神经症状加重的相关因素。【结论】WD患者脑脊液NSE水平可反映WD患者神经功能的缺失,可以作为预测青霉胺治疗后是否出现神经症状加重的指标,但不能作为评价神经症状严重程度的指标。神经系统损伤加重可能是WD患者青霉胺治疗后神经症状加重的机制之一。更多还原

【Abstract】 【Objective】 To investigate the clinical significance of the neuron specific enolase (NSE) in cerebrospinal fluid (CSF) and serum of Wilson disease (WD). 【Methods】 Forty primary WD patients and 20 healthy volunteers were enrolled to this study. The neural symptom scores were determined. NSE in CSF and serum, CSF and serum copper, and the albumin CSF / serum ratios (AR) were also evaluated. The neural symptom scores and these evaluations were conducted in the WD patients 3 months after penicillamine treatment. 【Results】 NSE concentration in the CSF of WD patients was lower than that of control and was lower than that in serum from WD patients. There was no significant difference of the NSE in CSF and serum between hepatic and encephalic type WD patients. There was no correlation between NSE concentration in CSF and the neural symptom scores. Significant negative correlation was found between NSE concentration in CSF and AR ratio. The NSE concentration of CSF increased in the patients who were developed secondary deterioration in neurological symptoms after penicillamine treatment. The NSE concentration in CSF was related with whether the disease was deteriorated or not after penicillamine treatment. 【Conclusions】 NSE concentration level in CSF of WD can reflect the defect of neural system, and can be used as an indicator to forecast whether the neurological symptoms aggravate or not after penicillamine treatment, but not as an index of neurological evaluation of the severity. The deteriorated nervous system damage may be one of the mechanisms that neurological symptoms aggravate in WD patients after penicillamine treatment.更多还原