title: [Wilson's disease in paediatric age: diagnosis and treatment. Recent advances].
abstract: Wilson's disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces clinical manifestations that may include hepatic, neurological, psychiatric, ophthalmological, and other derangements. This article discusses the recent progress in diagnosis and treatment of this disease in paediatric age.
authors.affiliation: Reparto di Pediatria, Ospedale, Sondrio. emipalu2003@yahoo.it
authors.forename: Emilio
authors.initials: E
authors.lastname: Palumbo
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D001252:Astringents / Q000008:administration & dosage; D027682:Cation Transport Proteins / Q000235:genetics; D002570:Ceruloplasmin / Q000378:metabolism; D002614:Chelating Agents / Q000008:administration & dosage; D002648:Child; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D005819:Genetic Markers; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D006801:Humans; D008099:Liver / Q000378:metabolism; D009154:Mutation; D010396:Penicillamine / Q000008:administration & dosage; D016896:Treatment Outcome; D014266:Trientine / Q000008:administration & dosage; D019287:Zinc Sulfate / Q000008:administration & dosage
chemical_list: D001252:Astringents; D027682:Cation Transport Proteins; D002614:Chelating Agents; D005819:Genetic Markers; D019287:Zinc Sulfate; D003300:Copper; D002570:Ceruloplasmin; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases; D010396:Penicillamine; D014266:Trientine