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

Autor: Roderick H. J. Houwen, Dominique Debray, Jörg Jahnel, Nedim Hadzic, Françoise Smets, Wojciech Jańczyk, Loreto Hierro, Lorenzo D'Antiga, Stuart Tanner, Valerio Nobili, Raffaele Iorio, Ulrich Baumann, Anil Dhawan, Björn Fischler, Antal Dezsofi, Piotr Socha, Henkjan J. Verkade, Pietro Vajro, Valérie A. McLin
Přispěvatelé: Center for Liver, Digestive and Metabolic Diseases (CLDM), Lifestyle Medicine (LM), Socha, Piotr, Janczyk, Wojciech, Dhawan, Anil, Baumann, Ulrich, D'Antiga, Lorenzo, Tanner, Stuart, Iorio, Raffaele, Vajro, Pietro, Houwen, Roderick, Fischler, Björn, Dezsofi, Antal, Hadzic, Nedim, Hierro, Loreto, Jahnel, Jörg, Mclin, Valérie, Nobili, Valerio, Smets, Francoise, Verkade, Henkjan J., Debray, Dominique
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Pediatrics
Cirrhosis
diagnosis
medicine.medical_treatment
Wilson’s disease
DNA Mutational Analysis
MUTATION ANALYSIS
Liver transplantation
hepatiti
Liver disease
0302 clinical medicine
Hepatolenticular Degeneration
Liver Function Tests
hepatitis
Child
Societies
Medical
Chelating Agents
treatment
ACQUIRED SIDEROBLASTIC ANEMIA
Gastroenterology
Ceruloplasmin
LIVER-TRANSPLANTATION
Wilson's disease
diagnosi
children
diagnosis
hepatitis
liver
treatment
Wilson’s disease
INITIAL TREATMENT
030211 gastroenterology & hepatology
medicine.symptom
medicine.medical_specialty
BILIARY ATRESIA
liver
Asymptomatic
03 medical and health sciences
ZINC THERAPY
children
Biliary atresia
Internal medicine
medicine
Humans
DIAGNOSTIC-ACCURACY
Monitoring
Physiologic
Hepatitis
business.industry
CLINICAL PRESENTATION
TRIETHYLENE TETRAMINE DIHYDROCHLORIDE
Hepatology
RELATIVE EXCHANGEABLE COPPER
medicine.disease
Liver Transplantation
Pediatrics
Perinatology and Child Health
business
030217 neurology & neurosurgery
Copper
Zdroj: Journal of Pediatric Gastroenterology and Nutrition, 66(2), 334-344. Lippincott Williams and Wilkins
Journal of Pediatric Gastroenterology and Nutrition, 66(2), 334. Lippincott Williams and Wilkins
ISSN: 0277-2116
Popis: 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.
Databáze: OpenAIRE
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