肝豆状核变性误诊研究

Study on misdiagnosis of Wilson disease

目的 :探讨肝豆状核变性 (WD)的临床特点 ,以提高该病早期确诊率。方法 :回顾 1989～ 2 0 0 0年本院 92例WD患者的临床资料 ,分析该病的临床特点和误诊原因。结果 :( 1)该病总误诊率较高 ,92例中有 41例首诊误诊 ,以肾与骨关节损害为主要表现者相对误诊率更高 ;( 2 )误诊率随时间推移而降低 ;( 3)不同年龄段的误诊率无显著差异。结论 :WD早期诊断困难 ,近年来该病首诊确诊率有所提高 ,但误诊率仍高 ;

Objective To investigate the clinical feature of Wilson disease (WD) and to improve the early diagnosis of the disease.Method 92 patients with WD from 1989 to 2000 of the hospital were reviewed.Their clinical feature and misdiagnosis conditions were studied.Results 41 cases (44.57%) were misdiagnosed,38 cases (41.80%) failed to be diagnosed as other diseases,only 13 cases (14.13%) had been diagnosed as WD in early diagnose.The misdiagnosed rate was especially high when WD complicated with kidney and osteoarthrosis.The difference was not significant of the misdiagnosis rate between patients of different ages.Conclusion It is difficult to diagnose WD in early stage.Though it is decreasing,the misdiagnosed rate is still high.