肝型和脑型肝豆状核变性的临床及MRI分析

Clinical and MRI analysis of hepatic and cerebral hepatolenticular degeneration

目的探讨肝型和脑型肝豆状核变性(Wilson disease,WD)患者头颅MRI影像学表现、眼底检查及其实验室检查的差异性。材料与方法回顾性收集陆军军医大学第一附属医院2009年至2019年度经实验室基因检测确诊的89例WD患者(脑型44例,肝型45例)的铜蓝蛋白、血清铜、眼底检查及头颅MRI检查的结果并进行分析,对MRI异常信号进行量化评定标准评分,并对不同临床类型的WD患者临床指标和影像结果进行比较。结果脑型和肝型WD患者KF环的阳性率无统计学差异(P=0.946>0.05);脑型WD患者血清铜及铜蓝蛋白的含量明显低于肝型WD患者(P<0.001),WD患者中脑型比肝型发病年龄更早、且发病时长更长(P=0.043,0.013<0.05),脑型WD患者脑部MRI除苍白球、丘脑、小脑外其余各部位出现异常信号比率均高于肝型患者(P<0.05)。两型患者在苍白球、丘脑的信号异常范围评分差异并无统计学意义(P>0.05),而累积程度评分脑型患者明显高于肝型患者(P<0.05);两型患者在小脑区域信号异常范围和累积程度分数差异无统计学意义(P=0.779>0.05)。脑型WD患者脑部MRI的T2序列范围及程度总分与发病时长呈正相关(r=0.315,P=0.038);而肝型WD患者无相关性。结论WD患者颅脑影像同时累及基底节区和脑干是肝型和脑型WD患者特征性影像表现。脑型患者颅内异常信号发生率、发病时长、以及颅内病变范围和程度均高于肝型患者。通过MRI检查T2序列的量化性评价可以在一定程度上反映和评估WD患者脑部的病理学阶段和程度。

Objective:To investigate the disparity of the imaging features,fundus examination and laboratory examination between hepatic and cerebral hepatolenticular degeneration[Wilson disease(WD)].Materials and Methods:The imaging features and clinical data,presentation,laboratory examinations of 89 patients with hepatolenticular degeneration diagnosed by gene test in the first affiliated hospital of army medical university hospital between 2009—2019 were collected and analyzed retrospectively.MRI abnormalities were rated using standardized methods.Comparison of clinical measures and imaging scores between different types of hepatolenticular degeneration patients were performed.Results:There was no significant difference in the positive rate of KF between brain type and liver type(P=0.946>0.05),but the content of copper and ceruloplasmin in patients of brain type were significant lower than those in patients of liver type(P<0.001).The abnormal signal rate of brain MRI except pallidum,thalamus and cerebellum in patients of brain type was higher than that in patients of liver type(P=0.043,0.013<0.05).There was no significant difference between the two types of patients in the abnormal signal range of globus pallidus and thalamus(P>0.05),while the cumulative score of patients with brain type was significantly higher than that of patients with liver type(P<0.05);there was no statistical significance between the two types of patients in the abnormal signal range and cumulative score of cerebellar region(P=0.779>0.05).The T2 sequence range and degree total score of brain MRI in patients with brain type hepatolenticular degeneration were positively correlated with the onset time(r=0.315,P=0.038),but not in patients with liver type.Conclusions:Brain images of WD patients with simultaneous involvement of basal ganglia and brainstem are characteristic imaging findings both in patients of liver and brain types.The intracranial abnormal signal ratio,onset time,and the range and extent of intracranial lesions in patients brain types were higher than those in patients with liver type.Quantitative evaluation of T2 sequences is a potential evaluation method for the pathological stages and extent of the brain in WD patients.