血清铜生化、肝功能检测对肝豆状核变性及携带者的诊断意义  

Diagnosis significance of serum copper biochemical, liver function examination in patients and carriers with hepato-lenticular degeneration

作　　者：方明娟[1] 杨任民[1] 王翼洁 吴君霞[1] 程楠[1] 胡纪源[1] 韩咏竹[1] 

机构地区：[1]安徽中医药大学神经病学研究所附属医院神经内科,合肥230031

出　　处：《中华临床医师杂志（电子版）》2015年第12期38-41,共4页Chinese Journal of Clinicians(Electronic Edition)

基　　金：国家临床重点专科建设开放基金项目(一般项目)(2014lckf0240)

摘　　要：目的通过对肝豆状核变性(HLD)患者及携带者的血清铜生化[血清铜(Cu)、铜氧化酶(Sco)和铜蓝蛋白(CP)]水平及肝功能(ALT、AST、白蛋白)水平的研究,探讨HLD患者及携带者的临床指标变化及铜代谢的相关规律。方法回顾性分析94例HLD患者和84例HLD携带者的血清铜生化(血清Cu、Sco和CP)水平及肝功能(ALT、AST、白蛋白)水平。结果 HLD组与携带者组血清Cu、Sco、CP及ALT、AST有统计学差异,白蛋白有统计学差异;94例HLD患者组铜生化异常有92例,铜生化异常率为97.87%;84例HLD携带者组铜生化异常者有33例,异常率为39.29%。其中仅CP降低的携带者有7例,占7.2%,仅血清Cu降低的携带者有33例,占39.29%,仅Sco降低的携带者有1例,占1.2%。结论 HLD组患者铜生化水平显著降低,肝功能明显异常。HLD携带者铜生化水平部分轻微降低,肝功能基本无异常。检测铜生化及肝功能水平在一定程度上可有助于HLD的诊断及排除是否为携带者,但进一步的确诊仍须基因检测结果的证实。Objective To investigate the levels of serum copper biochemical examination[copper ion （Cu2＋）, copper oxidase （Sco） and ceruloplasmin （CP）] and liver function （ALT, AST, albumin） in patients and carriers with hepato-lenticular degeneration （HLD） to explore the change of clinical indicators and characteristics of copper metabolism in HLD and HLD carriers. Methods Retrospective analysis of 94 patients with HLD and 84 carriers controls were measured for serum Cu2＋, Sco, CP levels and ALT, AST, albumin. Results There was a significant difference between HLD and carriers group in Cu2＋copper oxidase, ceruloplasmin, ALT, AST and difference in albumin. In the 94 HLD patients, the results of serum copper biochemical examination of 92 cases were abnormal, and the abnormality rate was 97.87%, in the 84 carriers, the results of serum copper biochemical examination of 33 cases were abnormal, and the abnormality rate was 39.29%, in 7.2%of the HLD carriers, the ceruloplasmin decreased, in 39.29%of the HLD carriers, the serum copper decreased, in 1.2%of the HLD carriers, the copper oxidase decreased. Conclusions The levels of HLD’ serum copper biochemical examination is significantly decreased, liver function is significantly abnormal. Part of HLD carriers’ levels of serum copper biochemical examination slightly reduced and without obvious abnormal in liver function. The level of serum copper biochemical examination and liver function can be as auxiliary diagnosis and differential diagnosis in HLD and HLD carriers, and further diagnosis still should be confirmed by genetic testing results.

关 键 词：肝豆状核变性 血浆铜蓝蛋白 血清铜 铜氧化酶 携带者 

分 类 号：R742.4[医药卫生—神经病学与精神病学]