CAJ | 학술논문

目的：总结以肝病为首发表现的肝豆状核变性（hepatolenticular degeneration, HLD）患者随访3年的疗效及临床意义。方法对34例以肝病为首发表现的HLD患者治疗前和随访3年后的临床表现和实验室检查结果进行回顾性分析。结果本研究中的HLD患者经过3年排铜治疗，获得91.2%的有效率。治疗后实验室指标[ALT（44±33）U/L、AST（43±20）U/L、RBC（4.93±0.72）×1012/L、胆碱酯酶（CHE）（4951±899）U/L、血清铜（4.5±3.5）μmol/L、24 h尿铜（198±240）μg]与治疗前[ALT（109±83）U/L、AST（97±55）U/L、RBC（4.28±0.56）×1012/L、CHE（4409±1248）U/L、血清铜（6.9±2.7）μmol/L、24 h尿铜（680±591）μg]相比，差异有统计学意义。多重线性回归结果显示：治疗后肝硬化患者的CHE上升幅度大于无肝硬化者；治疗后24 h尿铜下降越明显，则CHE上升越明显。结论以肝病为首发表现的HLD患者经过长期排铜治疗，可以获得明显临床收益而不良反应较少。早期诊断、早期治疗以及给予排铜治疗是治疗此类患者应坚持的指导原则。
목적：총결이간병위수발표현적간두상핵변성（hepatolenticular degeneration, HLD）환자수방3년적료효급림상의의。방법대34례이간병위수발표현적HLD환자치료전화수방3년후적림상표현화실험실검사결과진행회고성분석。결과본연구중적HLD환자경과3년배동치료，획득91.2%적유효솔。치료후실험실지표[ALT（44±33）U/L、AST（43±20）U/L、RBC（4.93±0.72）×1012/L、담감지매（CHE）（4951±899）U/L、혈청동（4.5±3.5）μmol/L、24 h뇨동（198±240）μg]여치료전[ALT（109±83）U/L、AST（97±55）U/L、RBC（4.28±0.56）×1012/L、CHE（4409±1248）U/L、혈청동（6.9±2.7）μmol/L、24 h뇨동（680±591）μg]상비，차이유통계학의의。다중선성회귀결과현시：치료후간경화환자적CHE상승폭도대우무간경화자；치료후24 h뇨동하강월명현，칙CHE상승월명현。결론이간병위수발표현적HLD환자경과장기배동치료，가이획득명현림상수익이불량반응교소。조기진단、조기치료이급급여배동치료시치료차류환자응견지적지도원칙。
Objective To assess the therapeutic efficacy in patients suffering from hepatolenticular degeneration (HLD) with liver disease as its initial manifestation during a 3-year follow-up, and to investigate its clinical significance. Methods Clinical features and laboratory findings in 34 HLD patients with liver disease as its initial manifestation before treatment and after 3-year follow-up were analyzed retrospectively. Results The total effectiveness rate was 91.2% after 3 years of anti-copper treatment. The laboratory indicators after treatment [ALT 44±33 U/L, AST 43±20 U/L, RBC (4.93±0.72)×1012/L, CHE 4951±899 U/L, serum cop-per 4.5±3.5 μmol/L and 24-hour urinary copper 198±240 μg] were significantly different from those before treatment [ALT 109±83 U/L, AST 97±55 U/L, RBC (4.28±0.56)×1012 /L, CHE 4409±1248 U/L, serum coppe 6.9±2.7 μmol/L and 24-hour urinary copper 680 ±591 μg]. Multiple regression analysis showed that the increase in CHE level in patients with liver cirrhosis was greater than that in patients without liver cirrhosis;the greater the decrease in 24-hour urinary copper, the greater the increase in CHE level after treatment. Conclusions HLD patients with liver disease as its initial manifestation can achieve better therapeutic efficacy with less adverse reactions after long-term anti-copper treatment. The early diagnosis and treatment (including anti-copper treatment) should be the key points to be followed for this kind of patients.