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Serum transaminases in children with Wilson's disease

Raffaele Iorio1, Mariangela D'Ambrosi, Matilde Marcellini

  • 1Department of Paediatrics, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy. riorio@unina.it

Journal of Pediatric Gastroenterology and Nutrition
|September 28, 2004
PubMed

Insights

Penicillamine and zinc treatments for Wilson's disease can normalize transaminase levels in children, but 36% still show elevated levels. Further research is needed for persistent hypertransaminasemia in pediatric Wilson's disease.

Area of Science:

  • Hepatology
  • Pediatric Gastroenterology
  • Pharmacology

Background:

  • Wilson's disease is a genetic disorder causing copper accumulation, primarily affecting the liver and brain.
  • Serum transaminase levels are key indicators of liver inflammation and disease activity in Wilson's disease.
  • The effectiveness of penicillamine and zinc in managing transaminase levels in pediatric Wilson's disease requires further elucidation.

Purpose of the Study:

  • To evaluate the response of serum transaminase levels to penicillamine and zinc treatments in children diagnosed with Wilson's disease.
  • To assess the long-term efficacy of these treatments in normalizing liver enzymes.

Main Methods:

  • A multicenter retrospective study involving 109 children with Wilson's disease treated for at least 12 months.
  • Data collected included clinical, laboratory, and histological features at diagnosis and initial treatment.
  • Efficacy was measured by the normalization of serum alanine aminotransferase (ALT) and clinical/laboratory improvements.

Main Results:

  • 64% of patients on penicillamine normalized ALT within a median of 17 months.
  • Among those with persistent high ALT, switching to zinc resulted in normalization in only 59% of cases.
  • 50% of patients initially treated with zinc alone normalized ALT within a median of 6 months.
  • Overall, ALT levels decreased significantly in patients with persistent hypertransaminasemia on both treatments (P = 0.0245).

Conclusions:

  • A significant subset of children (36%) with Wilson's disease-related liver disease maintained hypertransaminasemia despite appropriate penicillamine or zinc therapy.
  • While penicillamine and zinc are effective, treatment strategies may need individualization for persistent cases.
  • No predictive factors for persistent hypertransaminasemia were identified in this cohort.
Abstract

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