title: Wilson disease: what is still unclear in pediatric patients?
abstract: Since Wilson disease (WD) may not be present with evident clinical symptoms of liver injury and neurological presentation is rare in children, establishing a diagnosis is often challenging, especially in childhood. Increased transaminases can be the only abnormality found in early course of WD. In clinical practice, high suspicion is crucial for early diagnosis and timely treatment to ensure better outcomes. Conventional diagnostic criteria established for adults are commonly agreed for children but may not always be appropriate in very young age. Currently, the best therapeutic approach for each specific presentation of the disease remains controversial and there are no clear indications about how to treat pediatric WD patients with a mild liver disease.
authors.affiliation: Department of Translational Medical Science, Section of Pediatrics, University Federico II, Via Pansini 5, Naples 80131, Italy.
authors.forename: Giusy
authors.initials: G
authors.lastname: Ranucci
authors.affiliation: Department of Gastroenterology, Hepatology and Malnutrition, the Children's Memorial Health Institute, 04-730 Warsaw, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Socha
authors.affiliation: Department of Translational Medical Science, Section of Pediatrics, University Federico II, Via Pansini 5, Naples 80131, Italy. Electronic address: riorio@unina.it.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Iorio
mesh_terms: D002570:Ceruloplasmin / Q000032:analysis; D002614:Chelating Agents / Q000627:therapeutic use; D002648:Child; D003300:Copper / Q000032:analysis; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008099:Liver / Q000737:chemistry; D014131:Trace Elements / Q000627:therapeutic use; D015032:Zinc / Q000627:therapeutic use
chemical_list: D002614:Chelating Agents; D014131:Trace Elements; D003300:Copper; D002570:Ceruloplasmin; D015032:Zinc