成人肝豆状核变性临床及影像学特点分析  

Clinical and imaging features of hepatolenticular degeneration in adults

作　　者：任宏伟[1] 陈明[1] 王虎清[1] 高震[1] 巩雨 吴海琴[1] Ren Hongwei;Chen Ming;Wang Huqing;Gao Zhen;Gong Yu;Wu Haiqin(Department of Neurology,Second Affiliated Hospital of Xi'an Jiaotong University,Xi'an 710004,China)

机构地区：[1]西安交通大学第二附属医院神经内科,陕西西安710004

出　　处：《兰州大学学报（医学版）》2023年第7期59-63,70,共6页Journal of Lanzhou University（Medical Sciences）

基　　金：国家自然科学基金资助项目(81270415)。

摘　　要：目的分析成人肝豆状核变性的临床及影像学特点。方法回顾性分析西安交通大学第二附属医院于2010年03月-2020年12月收治的34例成人肝豆状核变性患者的临床表现、实验室检查及影像学特点,应用Spearman相关分析铜蓝蛋白水平与临床症状严重程度的相关性。结果34例患者中,男性16例,女性18例。发病年龄18~49岁,临床表现为神经系统损害28例(82.4%)、肝损害16例(47.1%)、肾损害1例(2.9%);其中28例(82.4%)以神经系统损害为首发症状。铜蓝蛋白减低32例(94.1%),K-F环阳性26例(76.5%),其中K-F环阳性患者中均伴有铜蓝蛋白减低。脑影像学特异性表现25例(73.5%)、正常4例(11.8%)、脑萎缩3例(8.8%)、左侧放射冠点状缺血灶1例(2.9%)、脑白质变性1例(2.9%)。铜蓝蛋白水平与临床症状严重程度相关(r_(s)=-0.472,P=0.005)。结论成人肝豆状核变性主要以神经系统损害为首发症状,多伴有肝功能异常,且铜蓝蛋白水平与临床症状严重程度呈负相关关系。Objectives To analyze the clinical and imaging features of hepatolenticular degeneration in adults.Methods Retrospectively observed were the clinical manifestations,laboratory tests and imaging characteristics of 34 adult patients with hepatolenticular degeneration admitted to the Second Affiliated Hospital of Xi'an Jiaotong University from March 2010 to December 2020.Spearman correlation was used to analyze the correlation between ceruloplasmin level and the severity of clinical symptoms.Results Of the 34 patients,16 were male and 18 female.The age of onset was from 18 to 49.The clinical manifestations were nervous system damage in 28(82.4%),liver damage in 16(47.1%)and kidney damage in 1(2.9%).Among them,28(82.4%)had nervous system damage as the first symptom.Ceruloplasmin decreased in 32(94.1%),K-F ring positive in 26(76.5%),and K-F positive patients were all accompanied by decreased ceruloplasmin.Brain imaging findings were specific in 25(73.5%),normal in 4(11.8%),atrophy in 3(8.8%),left radiographic coronal ischemia in 1(2.9%),and white matter degeneration in 1(2.9%).Ceruloplasmin level was correlated with the severity of clinical symptoms(r_(s)=-0.472,P=0.005).Conclusion Adults with hepatolenticular degeneration mainly had nervous system damage as the first symptom,and most of them were accompanied by liver damage.Moreover,ceruloplasmin levels were negatively correlated with the severity of clinical symptoms.

关 键 词：肝豆状核变性 铜蓝蛋白 K-F环 脑影像学 

分 类 号：R742.4[医药卫生—神经病学与精神病学]