晚发性Wilson病的临床特征分析  

Analysis of clinical features of late-onset Wilson disease

作　　者：刘力生 方明娟 杨任民 汪世靖 严彦 胡文彬 LIU Li-sheng;FANG Ming-juan;YAN Ren-min;WANG Shi-jing;YAN Yan;HU Wen-bin(Institute of Neurology,Anhui University of Chinese Medicine,Hefei ANHUI 230061,China;Department of Neurology,the Affiliated Hospital of Institute of Neurology,Anhui University of Chinese Medicine,Hefei ANHUI 230061,China)

机构地区：[1]安徽中医药大学神经病学研究所,安徽合肥230061 [2]安徽中医药大学神经病学研究所附属医院神经内科,安徽合肥230061

出　　处：《中国新药与临床杂志》2024年第2期107-112,共6页Chinese Journal of New Drugs and Clinical Remedies

基　　金：安徽省教育厅重点项目(KJ2021A0552);国家自然科学基金(81473535)。

摘　　要：目的总结分析晚发性Wilson病(LOWD)的临床特征。方法选取2018年1月至2022年8月首次入院LOWD患者67例,及同时间内入院的非晚发性Wilson病(nLOWD)患者67例,比较LOWD与nLOWD患者的临床表现、铜代谢特征、角膜K-F环(KFR)、腹部彩超、头颅MRI、基因型、改良中文版WD等级评定量表(UWDRS)评分、扭转痉挛发生率、Child-Turcotte-Pugh(CTP)分级、预后,初步探讨LOWD的临床特征。结果LOWD约占WD患者总数的5.1%。与nLOWD组相比,LOWD组脑型比例较低(P=0.000),血清铜蓝蛋白(CP,P=0.000)及血清铜氧化酶(SCO)水平、潜伏型/内脏型患者KFR阳性率、肝硬化比例较高(均P<0.05)。头颅MRI显示LOWD组额顶叶皮质下、半卵圆中心、放射冠及脑室旁点片状缺血灶改变多于nLOWD组(P=0.001),而基底节区、脑干大致对称性高信号的典型脑型WD影像学改变少于nLOWD组(P=0.000)。LOWD组ATP7B基因突变位点c.3316 G>A多见(P=0.044),c.2333 G>T少于nLOWD组(P<0.05)。LOWD组改良中文版UWDRS运动障碍部分评分(P=0.007)、扭转痉挛发生率(P=0.028)均低于nLOWD组。2组在CTP分级中A、B、C级比例存在差异(P=0.033),LOWD组肝硬化比例显著高于nLOWD组(P<0.05)。结论相对nLOWD患者,LOWD患者运动障碍较轻,而肝脏损害偏重,拥有更高的血清CP及SCO水平,头颅MRI上典型的基底节核团受累表现相对少见,而脑白质缺血灶样改变较常见。AIM To summarize and analyze of late-onset Wilson disease(LOWD)clinical features.METHODS Sixty-seven LOWD cases admitted for the first time from January 2018 to August 2022 in our hospital were selected,and 67patients of non-late-onset WD(nLOWD)admitted within the same period were selected as controls.Clinical presentation,copper metabolism characteristics,Kayser-Fleischer ring(KFR),abdominal ultrasound,cranial MRI,genotype,unified Wilson disease rating scale(UWDRS)score,incidence of torsion spasms,Child-Turcotte-Pugh(CTP)grade,and prognosis were compared,and the clinical features of LOWD were initially explored.RESULTS The proportion of patients with LOWD was about 5.1%of the total WD patients admitted.Compared with the nLOWD group,the LOWD group had lower proportion of neurologic type(P=0.000),higher level of serum ceruloplasmin(CP,P=0.000)and serum copper oxidase(SCO),higher KFR positivity rate in latent/hepatic patients and higher proportion of cirrhosis(all P<0.05).In terms of cranial MRI abnormal presentation,patients in the LOWD group showed more abnormalities in the sub frontal and parietal cortex,semioval centre,radial crown,and periventricular area(P=0.001)and less symmetry in the basal ganglia region,and brainstem(P=0.000).In the sequencing results of ATP7B gene,the mutation site c.3316 G>A was more common(P=0.044),while the mutation site c.2333 G>T was less rare(P<0.05).Finally,there were differences in the proportion of A,B,and C grades in CTP grading(P=0.033).The proportion of cirrhosis of UWDRS was significantly higher in the LOWD group than in the nLOWD group.CONCLUSION Compared with nLOWD patients,LOWD patients have milder movement disorders and more serious liver damage,with higher serum CP and SCO levels.The typical basal ganglia nucleus involvement on cranial MRI is relatively rare,ischemic foci-like changes in the cerebral white matter are more common.

关 键 词：WILSON病 晚发性障碍 肝豆状核变性 临床特征 铜转移三磷酸酶类 

分 类 号：R589[医药卫生—内分泌]