title: Wilson's disease: presymptomatic patients and Kayser-Fleischer rings.
abstract: OBJECTIVE
  We evaluated patients with Wilson's disease to determine (1) whether presymptomatic patients who have Kayser-Fleischer (K F) rings demonstrate a more significant alteration of copper metabolism than those who do not have K F rings, and (2) whether presymptomatic patients have smaller K F rings than symptomatic Wilson's disease patients.
  
  
  METHODS
  Thirty-two patients with presymptomatic Wilson's disease were retrospectively analyzed. Sixteen of these had received no prior anti-copper therapy and underwent testing for baseline copper metabolism (24-hour urine copper, liver copper, and plasma ceruloplasmin). Quantitative measurements of K F rings were made for the group of untreated presymptomatic patients and a control group of symptomatic Wilson's disease patients.
  
  
  RESULTS
  We hypothesized that the 24-hour urine copper, in particular, would correlate with the presence of a K F ring. However, no significant difference was found between any of the baseline copper variables for presymptomatic patients who had K F rings compared to those who did not. K F rings of presymptomatic patients were found to be significantly smaller than K F rings of patients with symptomatic Wilson's disease (p < 0.05).
  
  
  CONCLUSIONS
  While this study does not show any relationship between urinary copper excretion and the presence of K F rings, it suggests that the larger K F ring size correlates with Wilson's disease severity.
authors.affiliation: Department of Ophthalmology, W.K. Kellogg Eye Center, The University of Michigan Medical School, Ann Arbor, USA.
authors.forename: R
authors.initials: R
authors.lastname: Rodman
authors.forename: M
authors.initials: M
authors.lastname: Burnstine
authors.forename: B
authors.initials: B
authors.lastname: Esmaeli
authors.forename: A
authors.initials: A
authors.lastname: Sugar
authors.forename: C
authors.initials: C
authors.lastname: Martonyi
authors.forename: V
authors.initials: V
authors.lastname: Johnson
authors.forename: G
authors.initials: G
authors.lastname: Brewer
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000378:metabolism / Q000652:urine; D003315:Cornea / Q000473:pathology / Q000503:physiopathology; D003316:Corneal Diseases / Q000175:diagnosis* / Q000453:epidemiology*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000378:metabolism; D008297:Male; D015995:Prevalence; D012189:Retrospective Studies; D012737:Sex Factors
chemical_list: D003300:Copper; D002570:Ceruloplasmin