60例儿童肝型和脑型肝豆状核变性患者MRI影像分析

摘要/Abstract

摘要： 目的分析60例儿童肝型和脑型肝豆状核变性患者的核磁共振(MRI)影像。方法选取2023年1月—2026年1月郑州大学第二附属医院收治的经基因检测确诊为肝豆状核变性患儿60例,根据病发类型不同,将其分为脑型组(n=28)和肝型组(n=32)。比较两组临床特征、影像学特征,并采用受试者工作特征(ROC)曲线分析影像指标在鉴别儿童肝型和脑型肝豆状核变性中的价值。结果脑型组患儿的血清铜含量和铜蓝蛋白含量分别为(10.6±3.5)μmol/L、(81.3±35.2)mg/L,均低于肝型组[(15.3±5.2)μmol/L、(135.6±56.9)mg/L];脑型组发病年龄为(7.2±1.1)岁,低于肝型组[(8.6±2.5)岁];脑型组发病时长为(2.6±1.2)年,高于肝型组[(1.2±0.8)年,P<0.05]。脑型组患者伏隔核、尾状核、中脑、桥脑、延髓部位MRI信号出现异常的比率、T2WI加权成像病变累及范围评分分别为89.29%、78.57%、71.43%、100.00%、92.86%、(2.5±1.1)分、(1.20±0.30)分、(0.90±0.40)分、(1.1±0.3)分、(0.80±0.30)分,均高于肝型组[37.50%、40.63%、40.63%、62.50%、43.75%(0.7±0.2)、(0.20±0.06)、(0.20±0.05)、(0.4±0.1)、(0.10±0.02)分];脑型组在苍白球、伏隔核、尾状核、丘脑、中脑、桥脑、延髓等部位的受累程度评分分别为(1.8±0.7)、(1.4±0.8)、(0.70±0.30)、(1.8±0.6)、(0.7±0.3)、(0.6±0.2)、(0.4±0.2)分,均高于肝型组[(1.3±0.5)、(0.6±0.2)、(0.10±0.04)、(0.9±0.2)、(0.2±0.1)、(0.3±0.1)、(0.1±0.02)分,P<0.05]。ROC曲线分析结果显示,血清铜含量、铜蓝蛋白含量、发病年龄、发病时长、T2WI加权成像病变累及范围评分和受累程度评分在鉴别儿童肝型和脑型肝豆状核变性中具有较高的价值。结论血清铜含量、铜蓝蛋白含量、发病年龄、发病时长、T2WI加权成像病变累及评分和受累程度评分可用来鉴别诊断儿童肝型和脑型肝豆状核变性,从而为临床治疗肝豆状核变性提供帮助。

关键词: 肝型, 脑型, 肝豆状核变性, 磁共振成像

Abstract: Objective Magnetic resonance imaging (MRI) images of 60 pediatric patients with hepatic and cerebral hepatomegaly were analyzed. Methods Sixty children with Wilson′s disease confirmed by genetic testing admitted to the Second Affiliated Hospital of Zhengzhou University between between January 2023 and January 2026 were divided into the brain type group (n=28) and the liver type group (n=32) according to the type of disease occurrence. The clinical features and imaging characteristics of the two groups were compared, and the value of imaging indicators in identifying pediatric patients with hepatic and cerebral hepatomegaly was analyzed using receiver operating characteristic curve (ROC). Results The serum copper levels and ceruloplasmin levels of patients in the brain group were (10.6±3.5) μmol/L and (81.3±35.2) mg/L, respectively, which were lower than those in the liver group [(15.3±5.2) μmol/L and (135.6±56.9) mg/L, respectively], the age of onset was (7.2 ± 1.1) years in the brain-type group, which was lower than that in the liver group [(8.6±2.5) years], and the duration of onset was (2.6±1.2) years in the brain group, which was higher than that in the liver group [(1.2±0.8) years, P<0.05]; The rate of abnormal MRI signals in the nucleus accumbens, caudate nucleus, midbrain, pons, and medulla oblongata, and the T2WI-weighted imaging lesion involvement scores were 89.29%, 78.57%, 71.43%, 100.00%, 92.86%, (2.5±1.1), (1.20±0.30), (0.90±0.40), (1.1±0.3), and (0.80±0.30) points, respectively, in the brain-type group. ) points, (0.8±0.3) points, all higher than the liver type group [37.50%, 40.63%, 40.63%, 62.50%, 43.75%, (0.7±0.2) points, (0.20±0.06) points, (0.20±0.05) points, (0.4±0.1) points, (0.10±0.02) points, respectively]. Patients in the cerebral group had higher involvement scores in the pallidum, nucleus accumbens, caudate nucleus, thalamus, midbrain, pons, and medulla oblongata with (1.8 ± 0.7), (1.4 ± 0.8), (0.7 0± 0.30), (1.8 ± 0.6), (0.7 ± 0.3), (0.6 ± 0.2), and (0.4 ± 0.2) points, respectively, than those in the hepatic group [(1.3 ± 0.5), (0.6 ± 0.2), (0.10 ± 0.04), (0.9 ± 0.2), (0.2 ± 0.1), (0.3 ± 0.1), and (0.1 ± 0.02) points, P<0.05]; The results of ROC curve analysis showed that serum copper levels, ceruloplasmin levels, age at onset, disease duration, T2WI-weighted imaging lesion involvement score and extent of involvement score were of great value in differentiating between hepatic-type and neurological-type Wilson disease in children. Conclusion The serum copper level, ceruloplasmin level, age of onset, disease duration, T2WI-weighted imaging lesion involvement score and involvement score can be used to differentiate between hepatic-type and neurological-type Wilson disease in children and provide assistance for the clinical management of Wilson′s disease.

Key words: Liver type, Brain type, Wilson′s disease, Magnetic resonance imaging

李巍伟, 邢仪通, 李位峰, 詹丽倩. 60例儿童肝型和脑型肝豆状核变性患者MRI影像分析[J]. 肝脏, 2026, 31(8): 1169-1173.

Li Weiwei, Xing Yitong, Li Weifeng, Zhan Liqian. MRI imaging analysis of 60 pediatric patients with hepatic-type and neurological-type Wilson′s disease[J]. Chinese Hepatolgy, 2026, 31(8): 1169-1173.

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