肝豆状核变性精神症状特点、影响因素及排铜治疗的临床研究

目的研究肝豆状核变性（Wilson disease，WD）精神症状的特点、影响因素及排铜治疗对精神症状的治疗效果。方法选取WD患者80例（脑型60例，肝型20例），正常对照20例，用症状自评量表（SCL-90）、简易智能量表（MMSE）、汉密尔顿焦虑量表（HAMA）、汉密尔顿抑郁量表（HAMD）进行精神症状评估。脑型WD患者神经症状用改良Young量表进行评估。所有患者进行脑脊液铜、血清铜、尿铜、头部核磁共振检查。二巯基丙磺钠排铜治疗后，进行上述量表评分，复查铜代谢指标，对结果进行统计学分析。结果WD患者SCL-90显著高于正常对照者。精神症状依次是：行为障碍、情感障碍、智能障碍、记忆力下降、思维障碍、感知障碍。改良Young评分与精神量表评分无相关（P〉0．05）。改良Young量表震颤项目评分与SCL-90量表中躯体化、焦虑、敌对项目评分呈正相关（P〈0．05）；咽喉肌张力障碍、肢体肌张力增高、步态异常项目评分与抑郁项目评分呈正相关（P〈0．05）。基底节、丘脑病变是出现情感障碍的影响因素（P〈0．05）。脑脊液铜、血清铜、尿铜与精神量表评分无相关性（P〉0．05）。排铜治疗后，40％患者SCL-90量表总分降低，其中躯体化、焦虑、敌对项目评分明显下降（P〈0．05）。结论WD患者出现精神症状比例高。基底节、丘脑病变可能涉及WD患者异常情绪产生的病理机制。单独排铜治疗对精神症状的治疗效果不佳。精神症状的治疗应以排铜为基础，结合抗精神病药物。

The characteristic,influencing factors and the efficacy of decoppering therapy on psychiatric symptoms in Wilson disease.

Objective To explore the characteristics of psychiatric symptoms and its influencing factors in Wilson＇s disease （ WD）, as well as the effect of decoppering therapy on psychiatric symptoms in WD. Methods 80 patients with WD （60 cases with hepatic type and 20 cases with encephalic type） and 20 healthy controls were assessed with Symptom Cheaklist-90 item （SCL-90）, Mini Mental State Examination （MMSE）, Hamilton Anxiety Scale （HAMA）, Hamilton Depression Scale （HAMD） to evaluate their psychiatric symptoms. Improved Young scale was used to evaluate the neurological symptoms in 20 patients with encephalic type WD. All patients received concentration measurement of CSF copper, serum copper and urine copper, as well as the cranial MRI scan. Rating scales and copper metabolism indices were remeasured after decoppering therapy with sodium dimercaptopropanesulfonate. Results Score of SCL-90 in WD patients was significantly higher than that in healthy controls. Psychiatric symptoms in WD patients consisted of behavior disorder, affective disorder, disturbance of intelligence, impairment of memory, thought disturbance and disturbance of perception. Score of improved Young scale was not correlated with scores of psychiatric scales （P 〉 0.05 ）. Factor score of tremor item in improved Young scale was significantly positively correlated with factor scores of somatization, anxiety and hostility in SCL-90 （P 〈 0.05 ）. Factor scores of guttural dysmyotonia, limbs hypermyotonia, gait abnormal in improved Young scale were significantly positively correlated with factor score of depression in SCL-90 （ P 〈 0.05 ）. Lesions in basal ganglia and thalamus were influencing factors of abnormal mood （P 〈 0.05 ）. Level of CSF copper, serum copper and urine copper were not correlated with scores of psychiatric scales （P 〉 0.05 ）. Total score of SCL-90 in 40% of WD patients decreased after decoppering therapy, in which factor scores of somatization, anxiety and hostility decreased significantly （p 〈0.05）. Conclusion The incidence of psychiatric symptoms is high in patients with WD. Lesions in basal ganglia and thalamus in WD patients may be involved in the pathomechanism of abnormal mood. The efficacy Of decoppering therapy alone is not satisfactory in treating psychiatric symptoms in WD patients. It Should be used as basic treatment plus antipsychotics.