[Wilson disease in 2003].
The actuality of this review is based on the results of a recent international consensus conference on the diagnosis and phenotypic classification of Wilson disease published in 2003. The mechanism of the genetically determined copper elimination failure and the copper toxicity, the clinical presentation forms, the diagnosis and treatment of the disease is reviewed. Wilson disease should be taken into consideration in case of any liver disease of unknown origin or neuropsychiatric symptoms. The internationally accepted scoring system is presented.
Szalay
Ferenc
F
Semmelweis Egyetem, Altalános Orvostudományi Kar, I. Belgyógyászati Klinika, Budapest. szalay@bel1.sote.hu
D000251:Adenosine Triphosphatases / Q000378:metabolism*; D027682:Cation Transport Proteins / Q000378:metabolism*; D002614:Chelating Agents / Q000627:therapeutic use*; D003300:Copper / Q000378:metabolism*; D000073840:Copper-Transporting ATPases; D003937:Diagnosis, Differential; D005193:Family Planning Services; D005817:Genetic Counseling; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D008982:Molybdenum / Q000627:therapeutic use; D010396:Penicillamine / Q000627:therapeutic use; D010641:Phenotype; D014266:Trientine / Q000627:therapeutic use; D019345:Zinc Acetate / Q000627:therapeutic use; D019287:Zinc Sulfate / Q000627:therapeutic use
D027682:Cation Transport Proteins; D002614:Chelating Agents; D019287:Zinc Sulfate; D003300:Copper; D008982:Molybdenum; C020809:tetrathiomolybdate; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases; D019345:Zinc Acetate; D010396:Penicillamine; D014266:Trientine