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J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):334-344. doi: 10.1097/MPG.0000000000001787.

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

Author information

1
Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
2
Paediatric Liver GI and Nutrition Center, King's College Hospital, London, UK.
3
Division of Paediatric Gastroenterology and Hepatology, Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
4
Paediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy.
5
Children's Hospital, Sheffield, UK.
6
Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Naples.
7
Dipartimento di Medicina e Chirurgia, University of Salerno, Fisciano SA, Italy.
8
Department of Paediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
9
Department of Paediatrics, CLINTEC, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.
10
First Department of Paediatrics, Semmelweis University, Budapest, Hungary.
11
Paediatric Centre for Hepatology, Gastroenterology and Nutrition, King's College Hospital, London, UK.
12
Paediatric Hepatology Service, Hospital Infantil Universitario "La Paz," Madrid, Spain.
13
Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
14
Paediatric Gastroenterology Unit, Department of Pediatrics, University Hospitals Geneva, Geneva, Switzerland.
15
Hepatometabolic Unit, Bambino Gesu Children's Hospital, Rome, Italy.
16
Université Catholique de Louvain-IREC-Cliniques Universitaires Saint-Luc-Pediatric Gastroenterology and Hepatology Unit, Brussels, Belgium.
17
Department of Paediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
18
Pediatric Hepatology Unit, Centre National de Référence de la Maladie de Wilson, Hôpital Necker-APHP, Paris, France.

Abstract

BACKGROUND:

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.

METHODS:

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 performed 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.

PMID:
29341979
DOI:
10.1097/MPG.0000000000001787
[Indexed for MEDLINE]

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