Clinical profile, prognostic indicators and outcome of Wilson's disease in children: a hospital based study

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Samanta Tryambak1, Laha Sumanta, Purkait Radheshyam

  • 1Department of Paediatric Medicine, NRS Medical College and Hospital, Kolkata. ts_ped@rediffmail.com

Tropical Gastroenterology : Official Journal of the Digestive Diseases Foundation
|March 24, 2010
PubMed

Insights

Early diagnosis of Wilson disease in children is crucial for effective treatment. This study highlights key diagnostic tests and a new index for predicting outcomes in pediatric patients with this metabolic disorder.

Area of Science:

  • Pediatric Hepatology
  • Metabolic Disorders
  • Clinical Diagnostics

Background:

  • Wilson disease is a treatable tropical metabolic disorder with predominantly hepatic manifestations in children.
  • Early diagnosis is essential for managing the condition and preventing severe complications.

Purpose of the Study:

  • To investigate the diverse clinical presentations of Wilson disease in pediatric patients.
  • To assess the diagnostic accuracy of conventional tests for Wilson disease in children.
  • To evaluate the prognostic value of different indices in pediatric liver disorders.

Main Methods:

  • A prospective study conducted over three years in a pediatric department.
  • Inclusion of children aged 1-12 years meeting specific criteria.
  • Evaluation of diagnostic tests including 24-hour urinary copper excretion, serum ceruloplasmin, and Kayser-Fleischer rings.

Main Results:

  • Out of 34 children, 17 had liver involvement, 7 neurological, and 2 hematological; 8 were incidentally diagnosed.
  • Diagnostic test sensitivities: 24-hour urinary copper (100%), serum ceruloplasmin < 20 mg/dL (82.3%), K-F rings (32.35%).
  • A new Wilson Index showed higher sensitivity and specificity than the Nazer index for predicting mortality.

Conclusions:

  • The new Wilson Index demonstrates potential superiority in predicting mortality in pediatric Wilson disease.
  • High clinical suspicion and early diagnosis are vital for preventing mortality and severe manifestations.
  • Further validation of the new Wilson Index in larger cohorts is recommended.
Abstract

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