Wilson病患者驱铜治疗前后心电图的变化

目的观察Wilson病(WD)患者驱铜治疗前后心电图的变化。方法于入院3 d内及治疗8周后对28例WD患者行常规心电图和24 h动态心电图检查,结果进行比较。结果 28例患者中,治疗前常规心电图异常10例(35.7%);治疗后,恢复正常或明显好转6例,新出现窦性心动过速或过缓4例,无明显变化4例。治疗前及治疗后的心电图异常率差异无统计学意义(P0.05)。治疗前动态心电图异常的18例(64.3%);治疗后,恢复正常或明显好转8例,新出现窦性心动过速4例,新出现ST-T改变3例,无明显变化6例。治疗前及治疗后的动态心电图异常率差异无统计学意义(P0.05)。治疗前(135.79±57.30,57.36±34.19)24 h内全部正常心动周期的标准差和全程相邻两正常心动周期差值的均方根与治疗后(139.64±35.33,58.50±29.03)比较,差异无统计学意义(均P0.05)。结论 WD患者治疗前后心电图和动态心电图无明显变化。     

血清铜蓝蛋白氧化酶活性检测及其结果分析

目的:分析低血清铜蓝蛋白氧化酶活性在41例Wilson病(Wilson’sdisease,WD)和52例非Wilson病(non-Wilson’sdisease,NWD)患者之间的差异,协助临床尽早确诊或排除WD。方法:用分光光度计测定血清铜蓝蛋白(ceruloplasmin,CP)催化邻联大茴香胺产生的反应产物的吸光值,计算出酶活力。结果:WD组的CP活性为(11.17±13.80)IU·L-1,NWD组为(39.42±9.77)IU·L-1,两组差异有统计学意义P<0.001。部分NWD患者经治疗后,CP活性可显著升高,而WD组治疗前后未见明显变化。结论:极度降低的CP活性结合临床表现可确诊WD;治疗后CP活性显著升高,可作为排除WD的一个参考依据。     

还原型谷胱甘肽添加治疗Wilson病神经系统症状的疗效及对氧化应激水平的影响

目的探讨还原型谷胱甘肽添加治疗Wilson病(WD)神经系统症状的疗效及对氧化应激水平的影响。方法将60例有神经系统损害症状的WD患者随机分为谷胱甘肽组及对照组,每组30例。对照组行驱铜治疗和低铜饮食,谷胱甘肽组在此基础上加用还原型谷胱甘肽(0.9～1.8 g/d),治疗4周。于治疗前后分别行改良Young量表评分评价神经功能,检测血清总抗氧化能力(TAC)、丙二醇(MDA)、谷丙转氨酶(ALT)、天冬氨酸转移酶(AST)及24 h尿铜水平。结果与治疗前比较,治疗后谷胱甘肽组及对照组改良Young量表评分及MDA、ALT、AST水平均降低(均P0.05),TAC、24 h尿铜水平显著升高(均P0.05)。与对照组比较,谷胱甘肽组治疗前Young量表评分及TAC、MDA、24 h尿铜、ALT、AST水平差异无统计学意义(均P0.05)。与对照组相比,谷胱甘肽组治疗后改良Young量表评分及MDA、ALT水平明显下降(均P0.05),TAC、24 h尿铜水平显著升高(均P0.05),AST水平差异无统计学意义(P0.05)。结论还原型谷胱甘肽可加强排铜效果,提高抗氧化应激水平,改善WD患者的神经系统症状,安全性较高。     

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。     

60例精神分裂症的铜蓝蛋白测定

测定精神分裂症和正常人各60例的血铜蓝蛋白含量,患者组明显增高(P<0.05)。在性别及家族史上无明显差异,似有随病程而递减趋势,其中21例治疗前后对比,大多数经治后高于治疗前(P<0.001)。表明部分精神分裂惠者有血清铜蓝蛋白活性增高,吩噻嗪类药和电休克为其因素之一。     

铜针留置治疗血管瘤的安全性分析★

目的：回顾性分析铜针留置治疗血管瘤患者血清铜及肝功能变化，验证铜针留置是否会导致体内铜蓄积而引起毒性反应。 方法：广西医科大学第一附属医院1999-01/2006-01采用铜针留置治疗血管瘤50例，留置铜针10~45枚/例，平均28枚，留置时间7 d。观察患者留置铜针期间全身及局部变化、有无铜中毒表现，检测其中11例治疗前及留置铜针1，4，7 d后静脉血清铜及肝功能变化，以及拔出铜针时瘤体局部血清铜浓度。 结果：50例铜针留置后无明显铜中毒及肝功能异常的临床表现；11例留置铜针1，4，7 d后，静脉血清铜轻度升高，但与治疗前比无统计学差异（P > 0.05）；拔出铜针时局部血清铜高于静脉血清铜10倍；血清天冬氨酸转氨酶、丙氨酸转氨酶和γ谷氨酰转移酶活性升高，经秩和检验显示与治疗前比无统计学差异（P > 0.05），但部分患者留置铜针4 d后显著异常。 结论：铜针留置治疗血管瘤不会导致静脉血清铜浓度明显升高及急性铜中毒，但可导致局部铜积聚并对肝脏有潜在损害。     

垂体腺瘤患者围手术期血钠与血浆醛固酮、心钠素关系

目的研究垂体腺瘤患者血钠与血浆醛固酮（ALD）、心钠素（ANP）的变化,探讨手术后发生低血钠的原因,为低钠血症的预防及处理提供一种可行性方法.方法随机选择垂体腺瘤患者20例,分别测定术前及术后第一个24 h尿钠丢失量及血清钠、血浆ALD、ANP含量.结果20例患者手术后血钠下降9例,其中2例发生低钠血症;该9例患者术后尿钠丢失量明显增加（P＜0.05）,血浆ALD分泌减少.11例患者术后血钠不下降,尿钠丢失量无明显变化,血浆ALD分泌增加.血浆ANP含量在手术前、后均高于正常对照组（P＜0.05）.结论垂体腺瘤患者排钠因素占优势,尿钠丢失增加与血浆ALD代偿不足有关,是引起血钠下降主要原因之一.     

口服二巯丁二酸对肝豆状核变性临床疗效及尿铜的影响

２０例肝豆状核性患者，男１１例，女９例。年龄１０－３７岁。口服二巯丁二酸７０ｍｇ．ｋｇ．ｄ观察８周，结果表明，１２例好转，１例无效，有效率达９５％。疗前与疗后１－８周２４ｈ尿铜比较，结果显示；疗后各周及疗后总平均尿铜值均显著高于疗前。其尿排铜增高与临床疗效相一致。治疗期６例出现齿龈出血、皮下瘀斑外，未见其他副反应。     

二巯基丁二酸钠冲击治疗肝豆状核变性临床疗效及对体液微量 …

２８例肝豆状核变性患者采用二巯基丁二酸钠静脉冲击疗法，成人剂量１．０－２．０ｇ／次，儿童０．５－１．０／次，共８周，结果：２６例临床症状改善，２例无效，以假性化型和肝豆状核变性型疗效好，疗后平均２４小时尿铜比疗前明显增高，疗后各周的尿排铜量与时间呈负相关。该药对血、尿、脑脊液的锌、铁、钙含量无明显影响。１１例出现齿龈及鼻膜渗血，少数病例出现恶心及发热、皮疹等过敏反应，证实Ｎａ－ＤＭＳｊ ｇ ｔｋｈ     

Wilson病:肝内含铝量增加

过去虽已证实Wilson病(肝豆状核变性)有铜代谢异常,但这种元素在体内更进一步的变化却不完全清楚,且除铜以外,没有关于其它微量金属代谢障碍的报告.作者用中子活化分析法测定了铝、镁、钙及铜等的含量,并对Wilson病可能的致病过程进行了讨论.本文报告一例10岁男孩,因发音困难,举止迟缓和步态障碍3个月住院,检查呈面具脸表情,舌运动不灵,右臂强硬,指-指,指-鼻试验及轮替运动障碍,双侧角膜有K-F环.血清铜及铜兰旦白     

Copper deficiency myelopathy

Acquired copper deficiency has been recognised as a rare cause of anaemia and neutropenia for over half a century. Copper deficiency myelopathy (CDM) was only described within the last decade, and represents a treatable cause of non-compressive myelopathy which closely mimics subacute combined degeneration due to vitamin B12 deficiency. Here, 55 case reports from the literature are reviewed regarding their demographics, aetiology, haematological and biochemical parameters, spinal imaging, treatment and outcome. The pathophysiology of disorders of copper metabolism is discussed. CDM most frequently presented in the fifth and sixth decades and was more common in women (F:M = 3.6:1). Risk factors included previous upper gastrointestinal surgery, zinc overload and malabsorption syndromes, all of which impair copper absorption in the upper gastrointestinal tract. No aetiology was established in 20% of cases. High zinc levels were detected in some cases not considered to have primary zinc overload, and in this situation the contribution of zinc to the copper deficiency state remained unclear. Cytopenias were found in 78%, particularly anaemia, and a myelodysplastic syndrome may have been falsely diagnosed in the past. Spinal MRI was abnormal in 47% and usually showed high T2 signal in the posterior cervical and thoracic cord. In a clinically compatible case, CDM may be suggested by the presence of one or more risk factors and/or cytopenias. Low serum copper and caeruloplasmin levels confirmed the diagnosis and, in contrast to Wilson’s disease, urinary copper levels were typically low. Treatment comprised copper supplementation and modification of any risk factors, and led to haematological normalisation and neurological improvement or stabilisation. Since any neurological recovery was partial and case numbers of CDM will continue to rise with the growing use of bariatric gastrointestinal surgery, clinical vigilance will remain the key to minimising neurological sequelae. Recommendations for treatment and prevention are made.     

Copper deficiency myelopathy

BACKGROUND: In humans, Menkes disease is the well-recognized neurological disorder due to inherited copper deficiency. Myelopathy due to acquired copper deficiency is not a well-recognized entity in humans, although myelopathy due to copper deficiency is well documented in some animal species. PATIENTS: We describe 3 patients who developed a progressive spastic-ataxic gait with proprioceptive deficits. All patients had a severe reduction in serum ceruloplasmin and copper levels. RESULTS: All patients had evidence of posterior column dysfunction clinically and on somatosensory evoked potential studies. Two had a signal change in the posterior column on magnetic resonance imaging of the spinal cord. CONCLUSION: Patients presenting with otherwise unexplained myelopathies should have their serum ceruloplasmin level measured.     

Copper and prion disease

The prion protein is a cell surface glyco-protein expressed by neurones. Its function has remained elusive until it was recently shown to be a copper binding protein. There is now strong evidence that the prion protein has a role in normal brain copper metabolism. Prion protein expression alters copper uptake into cells and enhances copper incorporation into superoxide dismutase. Furthermore the prion protein itself can act as a superoxide dismutase. One aspect of prion disease is the conversion of functional prion protein into an aggregated amyloid. This conversion may alter the function of the prion protein or abolish it. These results suggest that prion disease may involve disturbance to brain copper homeostasis.     

铜缺乏性脊髓病临床分析

目的:探讨铜缺乏性脊髓病(CDM)的病因、临床表现及治疗方法。方法:回顾性分析7例铜缺乏性脊髓病患者的临床表现、辅助检查及治疗效果。结果:7例患者均有后索、侧索和周围神经损害,血清铜浓度降低;7例肌电图提示周围神经损害,体感诱发电位异常;2例MRI有胸髓改变。补铜治疗有效。结论:铜缺乏性脊髓病是以铜缺乏导致的后索、侧索及周围神经损害为主的疾病,早期诊断是治疗CDM的关键。