中华临床医师杂志（电子版）
中華臨床醫師雜誌（電子版）
중화림상의사잡지（전자판）
CHINESE JOURNAL OF CLINICIANS(ELECTRONIC VERSION)
2015年
12期
2310-2313
,共4页
方明娟%杨任民%王翼洁%吴君霞%程楠%胡纪源%韩咏竹
方明娟%楊任民%王翼潔%吳君霞%程楠%鬍紀源%韓詠竹
방명연%양임민%왕익길%오군하%정남%호기원%한영죽
肝豆状核变性%血浆铜蓝蛋白%血清铜%铜氧化酶%携带者
肝豆狀覈變性%血漿銅藍蛋白%血清銅%銅氧化酶%攜帶者
간두상핵변성%혈장동람단백%혈청동%동양화매%휴대자
Hepatolenticular degeneration%Ceruloplasmin%Copper%Copper oxidase%Carrier
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。
目的：通過對肝豆狀覈變性（HLD）患者及攜帶者的血清銅生化[血清銅（Cu）、銅氧化酶（Sco）和銅藍蛋白（CP）]水平及肝功能（ALT、AST、白蛋白）水平的研究，探討HLD患者及攜帶者的臨床指標變化及銅代謝的相關規律。方法迴顧性分析94例HLD患者和84例HLD攜帶者的血清銅生化（血清Cu、Sco和CP）水平及肝功能（ALT、AST、白蛋白）水平。結果 HLD組與攜帶者組血清Cu、Sco、CP及ALT、AST有統計學差異，白蛋白有統計學差異；94例HLD患者組銅生化異常有92例，銅生化異常率為97.87%；84例HLD攜帶者組銅生化異常者有33例，異常率為39.29%。其中僅CP降低的攜帶者有7例，佔7.2%，僅血清Cu降低的攜帶者有33例，佔39.29%，僅Sco降低的攜帶者有1例，佔1.2%。結論 HLD組患者銅生化水平顯著降低，肝功能明顯異常。HLD攜帶者銅生化水平部分輕微降低，肝功能基本無異常。檢測銅生化及肝功能水平在一定程度上可有助于HLD的診斷及排除是否為攜帶者，但進一步的確診仍鬚基因檢測結果的證實。
목적：통과대간두상핵변성（HLD）환자급휴대자적혈청동생화[혈청동（Cu）、동양화매（Sco）화동람단백（CP）]수평급간공능（ALT、AST、백단백）수평적연구，탐토HLD환자급휴대자적림상지표변화급동대사적상관규률。방법회고성분석94례HLD환자화84례HLD휴대자적혈청동생화（혈청Cu、Sco화CP）수평급간공능（ALT、AST、백단백）수평。결과 HLD조여휴대자조혈청Cu、Sco、CP급ALT、AST유통계학차이，백단백유통계학차이；94례HLD환자조동생화이상유92례，동생화이상솔위97.87%；84례HLD휴대자조동생화이상자유33례，이상솔위39.29%。기중부CP강저적휴대자유7례，점7.2%，부혈청Cu강저적휴대자유33례，점39.29%，부Sco강저적휴대자유1례，점1.2%。결론 HLD조환자동생화수평현저강저，간공능명현이상。HLD휴대자동생화수평부분경미강저，간공능기본무이상。검측동생화급간공능수평재일정정도상가유조우HLD적진단급배제시부위휴대자，단진일보적학진잉수기인검측결과적증실。
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.
