230例肝豆状核变性患者的临床特征分析  

Analysis of Clinical Characteristics of 230 Patients with Hepatomegaly

作　　者：孙娟 马守亮[2] 鲍远程[2] SUN Juan;MA Shouliang;BAO Yanchang(Graduate School of Anhui University of Chinese Medicine,Anhui Hefei 230038,China;The First Affiliated Hospital of Anhui University of Chinese Medicine,Anhui Hefei 230038,China)

机构地区：[1]安徽中医药大学研究生院,安徽合肥230012 [2]安徽中医药大学第一附属医院,安徽合肥230031

出　　处：《中医药临床杂志》2024年第5期934-938,共5页Clinical Journal of Traditional Chinese Medicine

基　　金：中国中医药管理局第七批全国老中医专家学术经验继承资助项目(2022);安徽省新冠病毒科研应急攻关专项公开竞争项目(2022e07020082)。

摘　　要：目的:总结肝豆状核变性患者的临床特征并分析。方法:回顾性分析2022年4月—2023年4月安徽中医药大学第一附属医院收治的230例肝豆状核变性患者的性别、年龄、病程、临床分型、临床表现、实验室/影像学检查结果。《肝豆状核变性诊断与治疗指南》作为肝豆状核变性诊断标准。根据患者临床表现特征,将入组患者分为3组:肝型、脑型、肝-脑型。3组间比较采用χ^(2)检验,3组中的两两比较均经过邦弗伦尼法(Bonferroni)校正。结果:230例患者中男146例,女84例,其中≤18岁者27例(11.7%)。肝型和脑型、肝型和肝-脑型的肝功能异常发生率存在统计学差异(均P<0.05)。脑型肝豆状核变性患者脑部影像学异常率高于肝型和肝-脑型(P<0.05),脑型患者有脑萎缩93例(89.4%),可能是由于铜沉积在脑组织中引起广泛变性,从而使脑室系统扩张,脑沟、脑裂增多增宽,造成脑萎缩。结论:肝豆状核变性多见青少年起病,临床表现主要为肝损害和神经系统损伤为主,脑型患者中脑萎缩多见,可能与铜离子沉积有关。Objective:To summarize and analyze the clinical characteristics of patients with hepatolenticular degeneration.Methods:A retrospective analysis was performed on the gender,age,disease course,clinical classification,clinical manifestations,laboratory/imaging of 230 patients with hepatolenticular degeneration admitted to the First Affiliated Hospital of Anhui University of Traditional Chinese Medicine from April 2022 to April 2023.Study examination results.“Guidelines for the Diagnosis and Treatment of Hepatolenticular Degeneration”serves as the diagnostic standard for hepatolenticular degeneration.According to the clinical manifestations and characteristics of the patients,the enrolled patients were divided into 3 groups:liver type,cerebral type,and liver-cerebral type.Comparisons among the 3 groups were performed using the χ test,and pairwise comparisons among the 3 groups were corrected by the Bonferroni method.Results:Among the 230 patients,146 were male and 84 were female,of which 27(11.7%)were≤18 years old.There were statistical differences in the incidence rates of abnormal liver function between hepatic type and cerebral type,hepatic type and liver-cerebral type(P<0.05).The abnormal rate of brain imaging in patients with cerebral hepatolenticular degeneration is higher than that of hepatic type and hepato-cerebral type(P<0.05).There are 93 cases(89.4%)of cerebral atrophy in patients with cerebral type,which may be due to copper deposition in brain tissue.It causes extensive degeneration in the brain,causing the ventricular system to expand,the sulci and fissures to increase and widen,and cause brain atrophy.Conclusion:Hepatolenticular degeneration mostly occurs in adolescents,and its clinical manifestations are mainly liver damage and nervous system damage.Midbrain atrophy is more common in patients with cerebral infarction,which may be related to copper ion deposition.

关 键 词：肝豆状核变性 疾病特征 肝功能异常 脑萎缩 

分 类 号：R742.4[医药卫生—神经病学与精神病学]