Fulminant Wilson's disease in children: appraisal of a critical diagnosis.

OBJECTIVES

To characterize fulminant Wilson's disease in children, outline clinical and biochemical differences to fulminant hepatic failure of other etiologies, and compare sensitivity and specificity in diagnosing fulminant Wilson's disease of alkaline phosphatase to total bilirubin ratio and aspartate aminotransferase to alanine aminotransferase ratio.

DESIGN

Retrospective case study.

SETTING

Twenty-two-bed multidisciplinary pediatric intensive care unit in a tertiary university hospital, national referral center for pediatric liver transplantation.

PATIENTS: Between March 1986 and December 1999, seven children, aged between nine and 16 yrs, were admitted in our unit for fulminant Wilson's disease. During the same period of time, aged-matched analysis identified 12 other children with fulminant hepatic failure of other etiologies.

INTERVENTIONS: None.

MEASUREMENTS AND MAIN

RESULTS

On admission, pediatric risk of mortality score, coagulation variables, and hepatic encephalopathy grade were similar in both groups. Children with fulminant Wilson's disease (n = 7) were characterized by lowered hemoglobin and serum transaminases, elevated serum bilirubin, and the occurrence of Kayser-Fleischer rings. Although some admission variables were significantly different between both groups, the elevated variability did not allow us to define acceptable cutoff values. Receiver operating characteristics curve for alkaline phosphatase to total bilirubin ratio showed a good discriminative power (Az = 0.87) in differentiating fulminant Wilson's disease from fulminant hepatic failure of other causes, and a ratio <1 showed a 86% sensitivity and 50% specificity (odds ratio, 6; 95% confidence interval, 66-0.5; p =.173) for fulminant Wilson's disease diagnosis.

CONCLUSIONS

Although requiring prospective study to confirm, Kayser-Fleischer rings and serum alkaline phosphatase to total bilirubin ratio may assist in the early diagnosis of fulminant Wilson's disease.