肝、脑型肝豆状核变性患者影像学及金属代谢的对比分析

Difference in imaging and metal metabolism between hepatic and cerebral type Wilson disease

目的研究肝型、脑型肝豆状核变性（WD）患者脑部结构性损伤、功能活动水平、金属沉积方面的差异。方法选取2013年7月至2016年5月中山大学附属第一医院WD患者40例（脑型20例，肝型20例），健康对照20名。进行弥散张量成像（DTI）、静息态功能磁共振（rs-fMRI）、磁敏感呈像（SWI）、金属代谢检查。选取苍白球、尾状核头、壳核、丘脑、小脑、黑质、红核为感兴趣区（ROI）。在DTI上测定RIO的部分各向异性值（FA），λ值；测定各核团之间联系纤维的数目、FA值。在rs-fMRI测定ROI的ALFF值和ERHO值。在SWI上测量ROI相位值（CP）。将肝型、脑型WD患者影像学指标和金属代谢指标进行对比分析。结果肝型WD患者多个核团、核团之间联系纤维DTI指标较脑型有差异。脑型尾状核、丘脑ALFF值低于肝型（P=0.037，0.040）；尾状核REHO值低于肝型（P=0.029）。脑型WD患者右侧尾状核、左侧壳核SWI相位值较肝型WD患者低（P=0.020，0.23）。肝型WD患者血清铁含量较正常增高（P=0.013），肝型WD患者尿铜高于脑型（P=0.021）。结论肝型WD患者脑部核团存在结构性损伤，有神经元自发性活动和协调性损伤及金属异常沉积。肝型患者脑部的结构性和功能性损伤较脑型患者轻微，而金属沉积与脑型的差异不显著。

ObjectiveTo evaluate the difference of metal metabolism, damage to structure and functional activity in brains between hepatic and cerebral type Wilson disease （WD）.MethodsForty patients with WD, including 20 with cerebral type and 20 with hepatic type, and 20 age-matched healthy controls in the First Affiliated Hospital, Sun Yat-sen University between Jul 2013 and May 2016 were enrolled.All study subjects underwent diffusion tensor imaging （DTI）, resting state functional MRI （rs-fMRI） and susceptibility weighted imaging （SWI） of the brain.Six regions of interest （ROIs） were chosen.The values of fractional anisotropy （FA）, λ in ROIs were determined on DTI, FA and fiber volumes between ROIs were also determined on DTI.The values of amplitude of low frequency fluctuation （ALFF） and regional homogeneity （REHO） in ROIs were determined on rs-fMRI.The values of corrected phase （CP） were calculated on SWI.The copper and iron content were measured.The difference of imaging and metal metrics between cerebral type and hepatic type WD were evaluated.ResultsDTI metrics differed between patients with the cerebral and hepatic types of WD.ALFF values in the caudate nucleus, and thalamus were lower （P=0.037, 0.040）, and REHO values in the caudate nucleus were lower （P=0.029）, in patients of cerebral type than in hepatic type patients.CP values of the right caudate nucleus and left putamen in cerebral type WD patients were lower than in hepatic type patients （P=0.020, 0.23）. The serum iron content of hepatic type WD patients was higher than the normal （P=0.013）, and the urine copper content was higher than the cerebral type patients （P=0.021）.ConclusionsMetal deposition and damage to the structure and functional activity in the brain may occur in hepatic type WD patients.The structural and functional activity damage of the brain in hepatic type is less severe than that in cerebral type patients, while the metal deposition is not significant different between hepatic and cerebral type.