摘要
目的分析肝豆状核变性患者的临床特点,提高对本病的认识,以提高早期诊治率。方法回顾性分析我院收治的15例肝豆状核变性患者的病例资料。结果 15例肝豆状核变性患者,最小发病年龄10岁,最大发病年龄49岁,平均发病年龄20. 7岁。临床分型以脑型及肝型为主,分别占46. 7%(7/15)及26. 7%(4/15)。33. 3%(5/15)曾被误诊。所有患者K-F环检查阳性(100%),血清铜蓝蛋白降低(100%)。11例患者接受青霉胺治疗,90. 9%(10/11)有效; 4例使用二巯基丙磺酸钠治疗,3例出现严重不良反应。结论肝豆状核变性多发于青少年,临床表现多样,易误诊,临床医生应提高对罕见表现的认识,提高早期诊治率,部分患者无法耐受传统治疗方式,需寻求新的治疗手段。
Objective To analyze the clinical features of hepatolenticular degeneration(HLD)for improving the awareness of this disease.Methods The clinical data of 15 HLD patients were analyzed respectively.Results Among the 15 patients,the minimum age of onset was10years,the maximum age of onset was 49 years,and the average age of onset was20.7years.There were 7 cases of nervous type(46.7%)and4cases of liver type(26.7%).Five cases(33.3%)were misdiagnosed.K-F rings were positive in 15 patients(100%).Fifteen cases(100%)had low ceruloplasmin.In the11cases treated with penicillamine,10cases(90.9%)were effective.Three cases developed severe side effects in4cases treated with mercaptopropionic acid sodium.Conclusion HLD is common in adolescents with various clinical manifestations,and prone to be misdiagnosed.In order to increase the rate of early diagnosis and treatment,clinicians should improve their understanding of rare manifestations.Some patients are unable to tolerate traditional medicine,therefore,it is necessary to seek new treatment methods.
作者
段姣妞
张莉芸
侯睿宏
马丹
张改连
许珂
DUAN Jiaoniu;ZHANG Liyun;HOU Ruihong;MA Dan;ZHANG Gailian;XU Ke(Department of Rheumatology and Immunology,Shanxi Academy of Medical Sciences,Shanxi Dayi Hospital,Taiyuan 030032,China)
出处
《山西医科大学学报》
CAS
2018年第12期1492-1495,共4页
Journal of Shanxi Medical University
关键词
肝豆状核变性
WILSON病
临床表现
诊断
治疗
hepatolenticular degeneration
Wilson’s disease
clinical manifestation
diagnosis
treatment
