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[Wilson's disease with liver copper in normal concentration].
M Odièvre1, J M Benard, H Debray
1Services de Pédiatrie L'Hôpital A.-Béclère, Porte-de-Trivaux.
Archives Francaises De Pediatrie
|October 1, 1988
Summary
Two children with Wilson's disease, identified by elevated liver enzymes (hypertransaminasemia), showed unusually low liver copper. Significant steatosis may explain this finding in Wilson's disease diagnosis.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
Background:
- Wilson's disease is an inherited disorder of copper metabolism.
- Persistent hypertransaminasemia can be an early indicator of Wilson's disease in children.
Observation:
- Two pediatric cases of Wilson's disease presented with persistent hypertransaminasemia.
- Low blood ceruloplasmin levels were noted in both patients.
- Liver copper concentration was lower than typically observed in presymptomatic Wilson's disease.
Findings:
- The reduced liver copper levels were potentially influenced by significant hepatic steatosis.
- Steatosis may mask or alter typical copper accumulation patterns in Wilson's disease.
Implications:
- This highlights the importance of considering steatosis when interpreting liver copper concentrations in pediatric Wilson's disease.
- Diagnostic approaches for Wilson's disease may need to account for co-existing fatty liver disease.