肝豆状核变性误诊研究

Misdiagnosis of Wilson's Disease

目的 :分析我院肝豆状核变性的临床特点和误诊情况。方法 :回顾 1983- 0 1/ 2 0 0 0 - 0 4我院 12 8例肝豆状核变性患者的情况 ,分析比较患者的临床特点、诊断方法和误诊情况等。结果 :112 8例患者中 ,6 4例以肝功能受损为首发症状 ,5 2例患者首发症状为中枢神经系统的损害 (P>0 .0 5 )。其他 12例为肾脏、骨骼或其他系统表现 ;2肝脏受累的患者较为年轻 (平均 13岁 ) ,而神经系统受累患者的平均年龄为 2 3岁 (P<0 .0 5 ) ;3角膜凯氏环阳性率为 96 .8% (12 4/12 8)。114例患者铜氧化酶吸光度的平均值为 0 .0 5 1± 0 .0 2 4,阳性率为 93% (10 6 / 114) ;4本病总误诊率较高 ,12 8例中有5 5例首诊误诊 (4 2 .9% )。 1990年以前的误诊率为 42 .3% (2 2 / 5 2 ) ,而 1990年以后的误诊率为 43.4% (33/ 76 ) ,两个时间段的误诊率相似 ;5 12 8例中 ,年龄 >18岁者 43例 ,<18岁者 85例。两个年龄组患者的误诊率分别是 39.5 % (17/ 43)和44 .7% (38/ 85 ) ,年龄 <18岁组患者的误诊率稍高 ,但两组没有显著性差异 (P>0 .0 5 )。结论 :肝豆状核变性临床表现多样 ,除了肝脏和神经系统受累为主外 ,还可以单纯累及肾脏或骨骼系统等。

Objective:To investigate the clinical feature and misdiagnosis of 128 patients with Wilson's disease and propose the points of diagnosis for this disease.Methods:128 patients with Wilson's disease from Jan,1983 to Apr,2000 of our hospital were reviewed.Their clinical feature and misdiagnosis conditions were studied.Results:①The first onset symptoms:64 were liver dysfunction and 52 were manifestation of CNA(P>0.05);②The age of liver dysfunction was significantly younger (average age 13 years)than that of CNS involved patients (average age 23 years,P<0.05);③The positive rate of cornea Kayser Fleischer ring was 96.8%;The value of copper oxidase absorbency was 0.051±0.024(0.01～0.16) and its postive rate was 93%;④The overall misdiagnosis rate was 42.9% (55/128) and the predominant misdiagnostic diseases were hepatitis A and chronic hepatitis;The misdiagnosis rate before and after 1990 was 42.3%(22/52) and 43.4%(33/76) respectively and their difference was not significant;⑤The misdiagnosis rate of patients with age less than 18 years old was 44.7%(38/85) and it was 37.2%(16/43) in patients of age more than 18 years old (P>0.05).Conclusion:The clinical manifestation was diverse and thus it misdiagnosis rate was very high.The age of liver involved patients was significantly younger than that of the CNS involved patients.Enhancing the knowledgement for this disease and determining the Cornea Kayser Fleischer ring and copper oxidase absorbency in clinic for those suspected patients was the way to decrease the misdiagnosis rate.