Wilson's disease (WD) causes neurological impairments, but research has traditionally focused on the basal ganglia, neglecting the potential role of the cerebellum. This study aims to investigate the relationships between emotion, cognition, and postural tremor in WD and to elucidate the role of the cerebellum in these interactions. We enrolled 57 patients with neurological WD, including 29 with postural tremor and 28 without tremor, and 16 healthy controls. All participants were assessed using the Cerebellar Cognitive Affective Syndrome scale (CCAS-S), the Implicit Positive and Negative Affect Test (IPANAT), and cranial MRI. Upper extremity postural tremor amplitude was quantitatively measured in the tremor patients. Voxel-based morphometry analysis was performed on cerebellar structural images derived from the MRI data. WD patients with postural tremor sustained multifaceted cognitive impairments. All WD patients with postural tremor exhibited basal ganglia lesions. Atrophy in the right cerebellar lobules I-IV was identified as a key differentiator between WD patients with and without postural tremor. Postural tremor amplitude in WD patients correlated with atrophy of the fastigial nuclei and brainstem lesions. Scores from the CCAS-S and IPANAT assessment were linked to the gray matter volume in several posterior cerebellar regions, primarily lobules VI, Crus II, VIIb, VIIIa, and IX. The cerebellum plays a critical role in regulating postural tremors, cognition, and emotions in WD, indicating that the pathological mechanism of WD is not confined to the basal ganglia but involves a broader network model.

Movement Disorders Clinical PracticeEarly View LETTERS: PUBLISHED ARTICLES Oculogyric Crisis in a Wilson's Disease Patient Ping Jin MD, Ping Jin MD orcid.org/0000-0001-6528-8330 Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorXiao-Ming Fu MD, Xiao-Ming Fu MD orcid.org/0000-0002-9127-081X Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorYu Wang MD, Yu Wang MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorXin-Feng Ma MD, Xin-Feng Ma MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorWen-Long Ai MD, Wen-Long Ai MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorYa-Yun Xu MD, Ya-Yun Xu MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorBo Li MD, Bo Li MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorQun-Rong Ye MD, Qun-Rong Ye MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorGong-Qiang Wang MD, Corresponding Author Gong-Qiang Wang MD [email protected] orcid.org/0009-0000-5317-4184 Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China Correspondence to: Dr. Gong-Qiang Wang, Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China. Institute of Neurology, Anhui University of Chinese Medicine. No. 357, Changjiang Middle Road, Hefei, China; E-mail: [email protected]Search for more papers by this author Ping Jin MD, Ping Jin MD orcid.org/0000-0001-6528-8330 Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorXiao-Ming Fu MD, Xiao-Ming Fu MD orcid.org/0000-0002-9127-081X Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorYu Wang MD, Yu Wang MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorXin-Feng Ma MD, Xin-Feng Ma MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorWen-Long Ai MD, Wen-Long Ai MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorYa-Yun Xu MD, Ya-Yun Xu MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorBo Li MD, Bo Li MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorQun-Rong Ye MD, Qun-Rong Ye MD Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, ChinaSearch for more papers by this authorGong-Qiang Wang MD, Corresponding Author Gong-Qiang Wang MD [email protected] orcid.org/0009-0000-5317-4184 Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China Correspondence to: Dr. Gong-Qiang Wang, Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China. Institute of Neurology, Anhui University of Chinese Medicine. No. 357, Changjiang Middle Road, Hefei, China; E-mail: [email protected]Search for more papers by this author First published: 10 December 2023 https://doi.org/10.1002/mdc3.13949 Funding: This study was supported by the Major Project of Clinical Research Fund of Anhui University of Traditional Chinese Medicine (2021sfylc04) and the Scientific Research Fund Project of Colleges and Universities in Anhui Province (2023AH050793). The funders had no role in conceptualization, and development or writing of the manuscript. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Kassavetis P, Kaski D, Anderson T, Hallett M. Eye Movement Disorders in Movement Disorders. Mov Disord Clin Pract 2022; 9(3): 284–295. https://doi.org/10.1002/mdc3.13413. 10.1002/mdc3.13413 PubMedWeb of Science®Google Scholar 2Leinweber B, Möller JC, Scherag A, et al. Evaluation of the unified Wilson's disease rating scale (UWDRS) in German patients with treated Wilson's disease. Mov Disord 2008; 23(1): 54–62. https://doi.org/10.1002/mds.21761. 10.1002/mds.21761 PubMedWeb of Science®Google Scholar 3Lee MS, Kim YD, Lyoo CH. Oculogyric crisis as an initial manifestation of Wilson's disease. Neurology 1999; 52(8): 1714–1715. https://doi.org/10.1212/wnl.52.8.1714. 10.1212/WNL.52.8.1714 CASPubMedWeb of Science®Google Scholar 4Barow E, Schneider SA, Bhatia KP, Ganos C. Oculogyric crises: etiology, pathophysiology and therapeutic approaches. Parkinsonism Relat Disord 2017; 36: 3–9. https://doi.org/10.1016/j.parkreldis.2016.11.012. 10.1016/j.parkreldis.2016.11.012 PubMedWeb of Science®Google Scholar 5Desai K, Agrawal S, Walzade P, Ravat SH, Agarwal PA. Atypical, early-onset dystonia-parkinsonism with oculogyric crises and anterior horn cell disorder due to a novel DJ-1 mutation. Mov Disord Clin Pract 2021; 8(Suppl 1): S16–S18. https://doi.org/10.1002/mdc3.13282. 10.1002/mdc3.13282 PubMedGoogle Scholar 6Lee JH, Lyoo CH, Lee JG, Lee MS. Oculogyric crisis associated with disulfiram-induced pallidonigral lesion. J Mov Disord 2009; 2(1): 48–49. https://doi.org/10.14802/jmd.09013. 10.14802/jmd.09013 PubMedGoogle Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation

目的 分析肝豆状核变性(Wilson disease,WD)并发肌张力障碍持续状态(status dystonicus,SD)患者的临床特点.方法 回顾性分析15例WD并发SD患者的临床特征、重要辅助检查、治疗及转归.结果 患者均表现为严重的全身型肌张力障碍发作,其中强直型13例,相位型2例.14例伴吞咽障碍、呼吸功能障碍、疼痛和虚脱.WD患者发生SD的主要诱因是铜螯合剂和感染.患者血肌酸激酶(creatine kinase,CK)显著升高,脑MRI呈对称性豆状核,中脑、丘脑和桥脑异常信号伴脑萎缩.患者均在支持和对症治疗基础上,积极寻找和去除诱因,予适度镇静和麻醉,调整特异性抗肌张力障碍方案.随访有效4例,无效10例,死亡1例,总体预后不佳.结论 WD是导致SD的重要潜在病因之一.WD并发SD的临床特征是原有肌张力障碍异常运动和姿势的严重恶化,可伴多种内环境紊乱并发症.虽然及早治疗可终止发作,但本病复发率高,远期结局仍差.

Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive condition caused by mutations in the galactocerebrosidase (GALC) gene. KD is more common in infants and young children than in adults. We reported the case of an adult-onset KD presenting with progressive myoclonic epilepsy (PME) and cortical lesions mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. The whole-exome sequencing (WES) identified a pathogenic homozygous missense mutation of the GALC gene. Parents of the patient were heterozygous for the mutation. The clinical, electrophysiological, and radiological data of the patient were retrospectively analyzed. The patient was a 24-year-old woman presenting with generalized seizures, progressive cognitive decline, psychiatric symptoms, gait ataxia, and action-induced myoclonus. The brain magnetic resonance imaging (MRI) revealed a right occipital cortical ribbon sign without any other damage. This single case expands the clinical phenotypes of adult-onset KD.

O'Sullivan-Mcleod syndrome is a very rare variant of MND with a good prognosis. Its clinical feature is distal lower motor neuron syndrome of both upper limbs, and there is no effective treatment at present. We reported a case of O'Sullivan-Mcleod syndrome in this paper.The patient exhibited with middle-aged progressive distal muscle weakness and atrophy of both upper limbs, without sensory, cognitive or behavioral impairment and without pyramidal tract sign. Laboratory examination, imaging and genetic tests showed no obvious abnormalities. EMG revealed neurogenic damage to the small muscles of both hands. Now we retrospectively analyzed the clinical features of a patient with O'Sullivan-McLeod syndrome, and data from 18 cases for comparative analysis, in order to improve its understanding by clinicians.

Objective To observe the changes of serum superoxide dismutase（SOD） activity in patients with hepatolenticular degeneration（HLD）, and to analyze the correlation of SOD activity with age, duration of disease, uric acid and 24 h urine copper.Method A retrospective analysis of 500 inpatients with HLD who were hospitalized.Referring to the HLD classification standard formulated by Yang Renmin et al in 2015, the gender, age, duration of disease, clinical classification, liver classification and clinical grade of the enrolled patients were counted.In addition, the serum SOD activity level, uric acid（UA） level and 24-hour urinary copper of the enrolled patients before copper complexation treatment, as well as the 24-hour urinary copper on the second day of the first course of treatment with sodium dimercaptopropanesulfonate.The differences in serum SOD activity levels of HLD patients with different gender, age, duration of disease, clinical classification, liver classification and clinical grade were analyzed and compared, and their correlation with serum SOD activity levels of patients was also analyzed.Results Among the 500 HLD patients, 25 had decreased serum SOD activity levels, and 136 had elevated serum SOD activity levels, with a total abnormal rate of 32.2%.There was no significant difference in serum SOD activity levels between males andfemales（P＞0.05）.There were significant differences in serum SOD activity levels among HLD patients with different age groups, duration of disease groups, clinical classification, liver classification and clinical grades（P＜0.05）.Among them, the serum SOD activity level of patients in the age group of 1-10 years was the highest, while that in the age group of 51-60 years was the lowest; the serum SOD activity level was the highest in patients with a course of 6-10 years, and the lowest in patients with a course of 21-30 years; the serum SOD activity levels were highest in patients with presymptomatic type, and lowest in patients with brain-visceral type; the level of serum SOD activity in patients with mild liver damage was the highest, and that in patients with liver nodule type was the lowest, and the serum SOD activity level of patients gradually decreased with the severity of liver damage; the serum SOD activity level of patients with clinical grade 0 was the highest, and that of patients with grade Ⅳ was the lowest, and the serum SOD activity level of patients gradually decreased with the increase of clinical grade.Spearman correlation analysis showed that: the serum SOD activity level of HLD patients was negatively correlated with age, disease course and 24 h urinary copper（P＜0.05）, and positively correlated with UA（P＜0.05）.Conclusion There were abnormal changes of SOD activity in HLD patients.The serum SOD activity of HLD patients was negatively correlated with age, duration of disease and 24-hour urinary copper, and positively correlated with UA.In addition, the level of serum SOD activity was affected by the degree of disease damage in HLD patients.With the aggravation of disease damage in HLD patients, the level of serum SOD activity decreased gradually.Observation of serum SOD activity in HLD patients has considerable clinical guidance value for the preliminary judgment of the severity of the disease in patients.

肌张力障碍持续状态是一种罕见的运动障碍疾病急症,其临床特征包括高热、自主神经功能紊乱、吞咽障碍和呼吸衰竭,多预后不良.需要紧急评估,并根据患者的临床特点和并发症进行干预.目前临床上对肌张力障碍持续状态的认识不足,文中针对肌张力障碍持续状态的诊治研究进行综述.

目的? 探讨视神经脊髓炎患者护理体会.方法? 选取2015年01月～2019年08月我院收治的视神经脊髓炎患者13例,按照护理方法不同将其分为对照组(n=7)和观察组(n=6).对照组进行常规护理,观察组进行舒适护理,比较2组最终疗效、护理满意率.结果? 观察组疗效为100.0％与对照组85.7％比较,差异有统计学意义(P<0.05);观察组满意率为100.0％与对照组71.4％比较,差异有统计学意义(P<0.05).结论? 舒适护理可有效提高视神经脊髓炎患者治疗依从性,改善恐惧,焦虑情绪,促进功能康复.

摄像对运动障碍疾病的诊疗具有独特优势.医学摄像不仅可以帮助临床医师更好地识别和鉴别运动障碍疾病,还可以指导医师动态观察患者病情变化.本文结合国外运动障碍疾病摄像建议和安徽中医药大学神经病学研究所附属医院经验,主要总结摄像前的准备、摄像疾病流程、摄像原则和技巧等方面内容,并列举常见运动障碍疾病摄像的具体操作,简要叙述视频文件长期存储安全性、患者知情同意等需要考虑的实际问题.此外,基于摄像视频的可视化教学能够提高教学质量,同时为临床科研和远程会诊提供新思路、新方法.

神经痛性肌萎缩(neuralgic amyotrophy,NA)是一种有特征性临床表现的周围神经疾病,其核心特征是臂丛神经支配肌肉的剧烈疼痛、无力,以及随后发生相应的肌肉萎缩和感觉异常[1].该病于1887年首次被描述,1948年Parsonage和Turner[2]描述了136名患有这种疾病的大型系列病例,此病有许多不同的名称,包括Parsonage-Turner综合征、急性臂丛神经病、急性臂丛神经炎、特发性臂丛神经病变、特发性臂丛神经炎、麻痹性臂丛神经炎等.现报道1例NA患者的诊治体会.

目的 分析Wilson病(WD)合并强直性脊柱炎(AS)患者的临床特征及治疗的相关性.方法 选择安徽中医药大学神经病学研究所附属医院神经内科自2012年1月至2018年3月收治的5例WD合并AS患者,回顾性分析患者的性别、发病年龄、病史、影像学检查等临床资料.结果 5例患者均为男性,9～26岁发病,2例因脑部症状/或合并肝硬化而先诊断为WD,2例因腰背部疼痛、关节活动受限而先诊断为AS,1例因上述症状同时出现诊断为WD和AS.入院时与出院后3个月的AS病情活动程度进行比较,差异有统计学意义(P=0.048).结论 WD合并AS患者发病年龄轻,伴有多器官损害,及时诊断、治疗对患者预后有重要意义.

目的:研究心理因素对失眠患者的影响.方法:选取2017年1～12月在我院睡眠障碍门诊和心理咨询门诊就诊的31例失眠患者作为治疗组,并选取同期27名年龄、性别和教育程度相匹配的健康体检者作为对照组.两组分别行PSQI评价、SCL-90评价和PSG,以评定两组的睡眠状况及心理状况.结果:治疗组的PSQI得分,PSG睡眠潜伏期得分,SCL-90总分、SCL-90人际关系得分,SCL-90抑郁项得分和SCL-90焦虑项得分均明显高于对照组,差异均有统计学意义,P＜0.05;治疗组的PSG睡眠时间和PSG睡眠效率得分明显低于对照组,差异均有统计学意义,P＜0.05;多元回归分析显示,PSG监测结果与PSQI问卷结果有明显相关性,睡眠潜伏期延长与焦虑情绪有明显相关性,r=0.763,P＜0.01.结论:心理因素会影响患者的睡眠状况,尤其以焦虑情绪的影响最大.

Holmes震颤(Holmes tremble, HT)也称丘脑震颤、红核震颤,是一种少见的临床综合征,主要原因为脑血管病[1],通常在原发病后0.5～24个月发生. HT临床表现为以病灶对侧上肢为主的低频的静止性震颤、姿位性震颤和意向性震颤中 1 种或多种组合,亦可伴有脑损伤的其他症状[2].HT 文献报道较少,现报告我院 2018 年 1 月确诊的、经盐酸苯海索联合左乙拉西坦治疗后症状稍改善的 1 例 HT病例.

目的:探讨肝豆状核变性(hepatolenticular degeneration,HLD)患者的述情障碍与中医证型的相关性,为中医药早期干预提供参考依据.方法:采用多伦多述情障碍量表(The twenty—item Toronto Alexithymia Scale,TAS-20)对165例HLD患者和42例健康人群进行问卷调查,运用t检验,方差分析对结果进行分析.结果:①HLD患者TAS-20得分情感辨别不能[(17.70±3.83)分]、情感描述不能[(18.82±3.97)分]、外向性思维[(19.24±4.22)分]高于正常组[分别为(7.36±1.86)分,(8.64±1.32)分,(8.17±1.58)分],差异具有显著性(P＜0.01).②各证型HLD患者情感辨别不能、外向性思维均受影响,差异具有显著性(P＜0.01).结论:HLD患者存在述情障碍,情感辨别不能、外向性思维方面更严重.

Objective To assess the clinical features of Wilson disease ( WD ) patients with freezing of gait ( FOG) , in order to facilitate recognition of the WD with FOG.Methods The age, course of disease, clinical symptoms characteristics, imaging features, apeutic efficacy of 25 cases of WD with FOG were analyzed.Results Twenty-five patients with WD with FOG offen onset in youth, and have long course of the disease.The gait movement in 25 patients had difficulty in starting, turning to, but smoothly when the obstacle was encountered, usually associated with severe dystonia and cirrhosis. The other clinical features included speech disorders, multiple abnormal involuntary movements, psychiatric symptoms, etc.MRI findings showed that the symmetrical abnormal signal of bilateral lenticular nucleus, brain stem ( midbrain, pons) , thalamus, part of it had cerebral cortex atrophy. After short-term treatment of copper-cleaning agents combined with bromocriptine, Piribedil sustained-release tablets, FOG could be improved in 18 cases, the effective rate was 72%.And clozapine was added in patients with no obvious improvement, and then 4 cases improved, the total effective rate was 88%.Conclusions WD with FOG is later than other types of WD in age of onset.FOG is rare in the onset of WD patients, and offen associated with multiple focal and generalized dystonia.Treatment of copper-cleaning agents combined with dopamine receptor agonists and clozapine have effect on WD with FOG in short term.

目的:分析威尔逊氏病(WD)患者的血清铜代谢指标和角膜K-F环分级变化,探讨中西医结合治疗驱铜有效性和可行性.方法:本研究首次纳入检测1001例WD住院患者,随机分为4组:PCA组(单用青霉胺治疗)、DMSA组(单用二巯基丁二酸胶囊治疗)、肝豆片组(单用肝豆片治疗)及中西医结合组(PCA/DMSA交替十肝豆片治疗),连续三年分别对于各组患者驱铜治疗前后的病情评估和角膜K-F环等相关检查,并将结果进行各组自身比较及组间比较.结果:各组男女性别比例、入院年龄和病程无统计学差异.通过各种治疗后血清铜(SCu)、铜氧化酶(Sco)、铜蓝蛋白(CP)和角膜K-F环分级变化均呈下降趋势,尤其中西医结合组评分改善程度明显,具有统计学差异(P＜0.05).结论:四种长期驱铜治疗均使患者体内蓄积的铜和角膜K-F环分级呈下降趋势,尤其中西医结合组显示出更佳及更持续的改善效应.

肝豆状核变性又称Wilson病(WD),是一种常染色体隐性遗传性铜代谢障碍疾病,大量的铜沉积在肝、脑、角膜等部位,引起相应器官组织受损.WD临床表现复杂多样,但无论是脑型、肝型还是其他类型,几乎所有患者均表现有不同程度的肝脏慢性损害.如果治疗不及时,就会形成肝纤维化,最终发展成为不同程度的肝硬化.迄今为止,国内外有关WD的研究报道主要集中于临床、影像学及基因突变等领域[1-4],其中关于肝脏病理学研究资料较少,对WD导致肝纤维化的机制研究甚少.因此了解WD肝纤维化的发病机制,完善治疗方法,对于WD患者的治疗及预后有很大的帮助.

目的 观察肝豆汤合驱铜疗法对Wilson病(Wilson's disease,WD)患者生活质量的影响.方法 共纳入135例WD患者,在二巯基丙磺酸钠强力驱铜治疗及青霉胺和二巯基丁二酸维持驱铜治疗的基础上,口服肝豆片.治疗前及治疗1年后分别采用WHO生活质量简表评价患者的生活质量,并观察总体疗效.结果 与治疗前比较,135例WD患者治疗后WHO生活质量简表的生理领域、心理领域、社会领域、环境领域得分均显著提高(P＜0.01).135例WD患者中,临床痊愈5例,显效33例,有效88例,无效7例,恶化2例,无死亡病例,总有效率达93.3％.结论 肝豆汤口服合驱铜治疗可以明显改善WD患者的生活质量.

OBJECTIVE:To observe blood uric acid levels and Goldstein grading, as well as their correlation in Wilson's disease (WD) patients with different Chinese medical syndrome types.METHODS:Totally 906 WD patients in line with inclusive criteria were assigned to 6 groups, i.e., the heart spirit confused by phlegm group (HSCP, 26 cases), the phlegm-fire disturbing heart group (PFDH, 90 cases), the retention of damp-heat group (RDH, 113 cases), deficiency of qi and blood group (DQB, 168 cases), the deficiency of Gan-yin and Shen-yin group (DGYSY, 327 cases), the deficiency of Gan and Shen group (DGS, 182 cases) due to different Chinese medical syndrome types. Recruited were another 160 healthy subjects having similar ages and diet structures, who came for medical examinations, as the healthy control group. Venous blood was collected from the medial cubital vein of each-patient on an empty stomach in early mornings to detect blood uric acid levels. Results Blood uric acid levels were lower in each syndrome type group than in the healthy control group (146.08 +/- 67.24 micromol/L in the HSCP group; 157.08 +/- 69.77 micromol/L in the PFDH group; 162.58 +/- 97.72 micromol/L in the RDH group; 156.20 +/- 62.63 micromol/L in the DQB group; 161.83 +/- 111.23 micromol/L in the DGYSY group; 194.41 +/- 90.01 micromol/L in the DGS group; 242.39 +/- 87.55 micromol/L in the healthy control group, P < 0.01). Blood uric acid levels were higher in the DGYSY group than in the other 5 syndrome groups (P < 0.01). Correlation analyses between Goldstein grading and blood uric acid showed that, along with increased Goldstein grade (that was aggravating disease conditions), WD patients' blood uric acid levels decreased (P < 0.01).CONCLUSIONS:WD patient's blood uric acid levels decreased more. Blood uric acid levels and Goldstein grading were different in various Chinese medical syndrome types. Blood uric acid levels had certain value in assessing the severity of WD.

目的 分析不同中医证型肝豆状核变性(hepatolenticular degeneration,HLD)患者临床客观指标的差异,为HLD辨证分型客观化提供依据.方法 回顾性分析2012年1月至2014年6月期间185例未经驱铜治疗的HLD患者的临床客观指标和中医证型,并比较不同中医证型患者客观指标的差异.结果 不同证型HLD患者的发病年龄,病程,血尿酸水平,角膜K-F环阳性率,肝脏超声影像学表现,以及肾脏损伤、腹水和胆囊疾患发生率比较,差异均具有统计学意义(P＜0.05),不同证型HLD患者的临床客观指标呈现不同的特征性变化.如肝肾不足证者发病最低,病程最短,血尿酸水平最高,角膜K-F环阳性率最低,肝脏超声主要呈现星光点征,肾脏损伤发生率最低.结论 HLD患者的年龄、病程、血尿酸水平、角膜K-F环、腹部彩色超声影像学表现对中医辨证分型具有一定参考价值.