Wilson's Disease in Children

Piotr Socha, Wojciech Janczyk, Anil Dhawan, Ulrich Baumann, Lorenzo D'Antiga, Stuart Tanner, Raffaele Iorio, Pietro Vajro, Roderick Houwen, Björn Fischler, Antal Dezsofi, Nedim Hadzic, Loreto Hierro, Jörg Jahnel, Valérie McLin, Valerio Nobili, Francoise Smets, Henkjan J. Verkade, Dominique Debray

Clinical presentations of Wilson's disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, while neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24h-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. Questions addressing the diagnosis, treatment and follow-up of WD in children were formulated by a core group of ESPGHAN members. A systematic literature search on WD using MEDLINE, EMBASE, Cochrane Database from 1990 to 2016 was peformed focusing on prospective and retrospective studies in children. Quality of evidence was assessed according to the GRADE system. Expert opinion supported recommendations where the evidence was regarded as weak. The ESPGHAN core group and ESPGHAN Hepatology Committee members voted on each recommendation, using the nominal voting technique.