首页|230例肝豆状核变性患者的临床特征分析

230例肝豆状核变性患者的临床特征分析

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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χ2 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.
Analysis of Clinical Characteristics of 230 Patients with Hepatomegaly
Objective:To summarize and analyze the clinical characteristics of patients with hepatolenticular de-generation.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 Af-filiated Hospital of Anhui University of Traditional Chinese Medicine from April 2022 to April 2023.Study examina-tion 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 Bon-ferroni 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 cer-ebral 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 tis-sue.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.

Hepatolenticular degenerationDisease characteristicsAbnormal liver functionBrain atrophy

孙娟、马守亮、鲍远程

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安徽中医药大学研究生院 安徽合肥 230012

安徽中医药大学第一附属医院 安徽合肥 230031

肝豆状核变性 疾病特征 肝功能异常 脑萎缩

中国中医药局全国老中医专家学术经验继承项目(第七批)(2022)安徽省新冠病毒科研应急攻关专项公开竞争项目

2022e07020082

2024

中医药临床杂志
中华中医药学会

中医药临床杂志

影响因子:0.636
ISSN:1672-7134
年,卷(期):2024.36(5)
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