小儿肝豆状核变性误诊病例分析及治疗观察  

Study on the clinical misdiagnosis of children with hepatolenticular degeneration

作　　者：胡纪源[1] 何光远[1] 李凯[1] 程楠[1] 王训[1] 韩咏竹[1] 杨任民[1] 

机构地区：[1]安徽中医学院神经病学研究所附属医院,合肥230061

出　　处：《中国实用儿科杂志》2001年第12期720-722,共3页Chinese Journal of Practical Pediatrics

基　　金：国家自然科学基金资助项目 ( 395 70 878)

摘　　要：目的　分析小儿肝豆状核变性临床误诊的原因以及因误诊而对治疗效果的影响。方法　回顾分析初次住院的患儿 ,分为临床误诊、诊断不明和近期确诊三组 ,并对各组误诊误治有关资料进行统计学分析。结果　36 3例中 2 17例入院前被长期误诊 (5 9 8% ) ,5 2例长期诊断不明 (14 3% ) ,仅 94例 (2 5 9% )能在首发症状出现 3个月内获得正确诊断。被长期误诊的 2 17例中误诊病名多达 5 0余种 ,最常见的依次为各种类型肝炎、肝硬化和(或 )腹水、脾肿大、脾功能亢进、关节炎、肾炎及脑炎 (或脑病 )等 ,共 34 7例次。治疗前后三组间的严重程度及治疗效果对比有显著差异 (P <0 0 1)。结论　本病易被长期误诊或诊断不明 ,早期治疗对预后至关重要。建议对具有上述易被误诊疾病症状的患儿常规行角膜K -F环及铜代谢检查 。Objective To find out the relationship between curative effect and misdiagnosis of children with hepatolenticular degeneration(HLD). Methods All the children were first hospitalization, they were divided into 3 groups: ①misdiagnosed group; ②unclearly diagnosed group who had not been finally diagnosed for 3 months; and ③clearly diagnos group who were finally diagnosed in 3 months. Their data were put into the computer and dealt with through statistical package. Results Review of the 363 patients' notes showed that 217(59 78%) were misdiagnosed, 52(14 33%) were unclearly diagnosed, only 94(25 9%) were diagnosed in 3 months. The category of misdiagnosed diseases were more than 50 The more common diseases were all types of hepatitis, cirrhosis/hydroperitonia, splenomegalia, hypersplenia, arthritis, nephritis, encephalitis, encephalopathy, and so on. There are significan difference of curative effect and criticality between the children in clearly diagnosed group, misdiagnosed group and unclearly diagnosed group(P<0 01). Conclusion The children with HLD are usually misdiagnosed by physicians. If a child had the symptoms described in this article, it's essential that he should be screened by checking cornea K-F rings and copper metabolism.

关 键 词：肝豆状核变性 误诊 儿童 诊断 

分 类 号：R742.4[医药卫生—神经病学与精神病学]