Wilson's disease: 35 years' experience
Lau, J.Y.; Lai, C.L.; Wu, P.C.; Pan, H.Y.; Lin, H.J.; Todd, D.
Quarterly Journal of Medicine 75(278): 597-605
1990
ISSN/ISBN: 0033-5622 PMID: 2217665 Document Number: 357912
Thirty-seven Chinese patients fulfilling the criteria for Wilson's disease seen during a 35-year period were reviewed. Males and females were equally affected. Twenty-two patients were symptomatic and 15 asymptomatic; most of them presented before the third decade. Thirty-one per cent of the relatives screened showed evidence of disease, and parents were rarely affected (13 per cent). Half of the adult symptomatic females presented with primary amenorrhoea. Liver laboratory tests were abnormal in only 50 per cent of patients, with .gamma.-glutamyl-transpeptidase being the most sensitive index. Renal disease was infrequent. Serum caeruloplasmin level was the single biochemical parameter of prognostic significance (p = 0.0001). Seventy per cent of the symptomatic patients showed an improvement after treatment with penicillamine.