摘要
目的总结年龄>35岁发病的肝豆状核变性(HLD)患者的临床特征。方法回顾性收集2018年4月—2023年4月四川大学华西公共卫生学院诊治的年龄>35岁发病的HLD患者的临床资料,根据HLD患者临床症状,分为混合型(n=13)、肝型(n=12)和脑型(n=5)。收集病例的性别、临床表现、确诊年龄、确诊距首发症状时间、家族史等信息;实验室检查,血常规、肝肾功能、血清铜、血清铜蓝蛋白、尿铜、凝血功能等指标以及影像学检查等情况。符合正态分布的计量资料多组间比较采用单因素方差分析;不符合正态分布的计量资料多组间比较采用Kruskal-Wallis H检验。计数资料组间比较采用Fisher确切概率法。结果30例HLD患者中,男女比例3∶1,平均年龄(46.13±5.88)岁,角膜K-F环阳性者占43.33%,肝硬化患者高达66.67%。三组间球蛋白、白球比、ALT、凝血酶原时间、国际标准化比率、部分活化凝血活酶时间差异均有统计学意义(F值分别为5.893、4.513、4.424、5.029、5.248、4.942,P值均<0.05)。结论35岁以后确诊HLD的患者男性居多,以混合型和肝型为主,肝脏和凝血功能情况较差,对于该年龄段不明原因的肝功能异常及肝硬化,应尽早筛查血清铜蓝蛋白、尿铜等指标,并进行肝肾功能和凝血功能的监测。
Objective To investigate the clinical features of patients with hepatolenticular degeneration(HLD)aged above 35 years.Methods A retrospective analysis was performed for the clinical data of the patients with HLD,aged above 35 years,who attended West China School of Public Health,Sichuan University,from April 2018 to April 2023,and according to their clinical symptoms,they were divided into mixed type group with 13 patients,liver type group with 12 patients,and brain type group with 5 patients.Related data were collected,including general information(sex,clinical manifestation,age at confirmed diagnosis,time from initial symptoms to confirmed diagnosis,and family history),laboratory examination(routine blood test,liver and renal function,serum copper,serum ceruloplasmin,urinary copper,and coagulation function),and radiological examination.A oneway analysis of variance was used for comparison of normally distributed continuous data between multiple groups,and the Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between multiple groups;the Fisher’s exact test was used for comparison of categorical data between groups.Results For the 30 patients with HLD,the male/female ratio was 3∶1,and the mean age was 46.13±5.88 years;the patients with positive Kayser-Fleischer ring of the cornea accounted for 43.33%,and the patients with liver cirrhosis accounted for 66.67%.There were significant differences between the three groups in globulin,albumin/globulin ratio,alanine aminotransferase,prothrombin time,international normalized ratio,and activated partial thromboplastin time(F=5.893,4.513,4.424,5.029,5.248,and 4.942,all P<0.05).Conclusion Most patients are male among the patients diagnosed with HLD after 35 years of age,with the main clinical types of mixed type and liver type,and such patients tend to have poor liver and coagulation functions.For unexplained liver function abnormalities and liver cirrhosis in this age group,the indicators such as serum ceruloplasmin and urinary copper should be screened as early as possible,and liver and kidney function and coagulation function should be monitored.
作者
沃洪云
康成为
詹蕾
蒲小兵
WO Hongyun;KANG Chengwei;ZHAN Lei;PU Xiaobing(Department of Geriatric Care and Palliative Medicine,West China School of Public Health and West China Fourth Hospital,Sichuan University,Chengdu 610041,China;Department of Orthopedics,West China School of Public Health and West China Fourth Hospital,Sichuan University,Chengdu 610041,China)
出处
《临床肝胆病杂志》
CAS
北大核心
2024年第1期116-120,共5页
Journal of Clinical Hepatology
基金
四川省医学会科研课题计划(S21105)。
关键词
肝豆状核变性
诊断
成年人
Hepatolenticular Degeneration
Diagnosis
Adult
