Wilson's disease: presymptomatic patients and Kayser-Fleischer rings.
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.
Rodman
R
R
Department of Ophthalmology, W.K. Kellogg Eye Center, The University of Michigan Medical School, Ann Arbor, USA.
Burnstine
M
M
Esmaeli
B
B
Sugar
A
A
Martonyi
C
C
Johnson
V
V
Brewer
G
G
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
D003300:Copper; D002570:Ceruloplasmin