迟发型肝豆状核变性的临床特点和治疗转归  

Clinical character and therapeutic effect of late-onset Wilson disease

作　　者：张永红[1] 杨旭[1] 唐晓鹏[1] 罗虹雨[1] 雷建华[1] 

机构地区：[1]中南大学湘雅二医院肝病研究中心,长沙410011

出　　处：《中南大学学报（医学版）》2009年第1期40-44,共5页Journal of Central South University ：Medical Science

基　　金：教育部高等学校博士学科点专项科研基金(20050533025)~~

摘　　要：目的:探讨迟发型肝豆状核变性(Wilson disease,WD)的临床特点和治疗转归,为迟发型肝豆状核变性的诊断和治疗提供科学依据。方法:分析8例迟发型肝豆状核变性的临床特点、铜代谢变化及其治疗结果。采用免疫散射比浊法测定铜蓝蛋白,原子吸收光谱法测定血清铜、尿铜和肝铜;初期治疗用二巯基丙磺酸钠,维持治疗用青霉胺或锌剂。结果:迟发型肝豆状核变性占肝豆状核变性总数的7.0%,肝病型起病缓慢,恶心、纳差等不明显,极易误诊。血常规、氨基转移酶多数正常,均有K-F环,肝功能受损程度及铜代谢异常相差甚大。二巯基丙磺酸钠治疗第1天平均排铜4072μg,是治疗前的18.1倍,是同等剂量青霉胺的2.5倍,未见明显副作用,患者预后良好。结论:迟发型肝豆状核变性并非少见,极易误诊,值得高度重视,初期用二巯基丙磺酸钠治疗可取得良好疗效。Objective To investigate the clinical character and therapeutic effect of late-onset Wilson disease, and to provide some evidence for its diagnosis and treatment. Methods Clinical character, changes of copper metabolism, and therapeutic effect of 8 patients with late-onset Wilson disease were analyzed. Ceruloplasmin level was measured by nephelometry, and the copper contents in the serum, urine, and liver were measured by flame atomic absorption spectroscopy. The initial treatment was sodium dimercaptosulphonate, followed by D-penicillamine and/or zinc. Results Patients with late-onset Wilson disease accounted for 7.0 % of all patients, Who presented liver disease symptoms such as loss of appetite or nausea at the early stage and were misdiagnosed easily. Their blood routine and aminotransferase levels were normal in most patients with late-onset Wilson disease, and all patients had Kayser-Fleisher rings. There was significant difference between the liver function and copper metabolite test. The average urinary copper content was 4 072 μg/24 h on the first day after administrating sodium dimercaptosulphonate, which was 18. 1 times as much as that before the treatment, and 2.5 times as much as that of D-penicillamine. No obvious adverse reactions were observed. The prognosis was usually good. Conclusion Enough attention should be paid to late-onset Wilson disease which is not rare and easy to be misdiagnosed. Good response can be expected in patients treated with sodium dimercaptosulphonate in the initial stage.

关 键 词：肝豆状核变性 K—F环 铜蓝蛋白 尿铜 二巯基丙磺酸钠 

分 类 号：R742.4[医药卫生—神经病学与精神病学]