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Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition

Publié dansJournal of Pediatric Gastroenterology and Nutrition, vol. 66, no. 2, p. 334-344
Date de publication2018
Résumé

Clinical presentations of Wilson's disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, whereas neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24-hour urinary copper excretion. Final diagnosis of WD can be established using a diagnostic scoring system based on symptoms, biochemical tests assessing copper metabolism, and molecular analysis of mutations in the ATP7B gene. Pharmacological treatment is life-long and aims at removal of copper excess by chelating agents as D-penicillamine, trientine, or inhibition of intestinal copper absorption with zinc salts. Acute liver failure often requires liver transplantation. This publication aims to provide recommendations for diagnosis, treatment, and follow-up of WD in children.

Mots-clés
  • Ceruloplasmin/metabolism
  • Chelating Agents/therapeutic use
  • Child
  • Copper/metabolism
  • DNA Mutational Analysis
  • Gastroenterology
  • Hepatolenticular Degeneration/diagnosis/therapy
  • Humans
  • Liver/pathology
  • Liver Function Tests/methods
  • Liver Transplantation
  • Monitoring
  • Physiologic/methods
  • Societies
  • Medical
  • Children
  • Diagnosis
  • Hepatitis
  • Liver
  • Treatment
  • Wilson's disease
Citation (format ISO)
SOCHA, Piotr et al. Wilson’s Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. In: Journal of Pediatric Gastroenterology and Nutrition, 2018, vol. 66, n° 2, p. 334–344. doi: 10.1097/MPG.0000000000001787
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Article (Published version)
accessLevelRestricted
Identifiants
ISSN du journal0277-2116
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Création01/11/2019 12:33:00
Première validation01/11/2019 12:33:00
Heure de mise à jour15/03/2023 18:41:21
Changement de statut15/03/2023 18:41:20
Dernière indexation17/01/2024 08:41:02
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