[Analysis of 128 Wilson's disease].

OBJECTIVE

To investigate the clinical feature and misdiagnosis of 128 patients with Wilson's disease and propose the points of diagnosis for this disease.

METHOD

128 patients with Wilson's disease from Jan. 1983-Apr. 2000 admitted to our hospital were reviewed. Their clinical feature and diagnosis condition, such as the early onset symptoms, misdiagnosis and hypersplenism were studied.

RESULTS

1. The first onset symptoms: 64 were liver dysfunction and 52 were manifestations of CNS (P > 0.05). 2. The average age of patients with liver dysfunction was significantly younger (13 +/- 3.5 years) than that of CNS manifestations (23 +/- 8.3 years, P < 0.05). 3. The 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 positive rate was 93%. 4. The overall misdiagnosis rate was 42.9% (55/128) and the predominant mis-diagnostic diseases were hepatitis A and chronic hepatitis.

CONCLUSION

The clinical manifestations are diverse, which make the misdiagnosis rate very high. The age of liver dysfunction patients is significantly younger than that of the CNS manifestations patients. Cornea Kayser-Fleischer ring and copper oxidase absorbency are of high positive rate, as it can be carried out conveniently in clinics we recommends to use this diagnostic measure for Wilson's disease.