[Wilson's disease. A retrospective analysis of 12 cases].
We reviewed retrospectively 12 patients with Wilson's disease diagnosed during a 16-year period (1974-1989). The prevalence rate was 0.6 per 100,000 individuals. Clinical onset was hepatic (50%) or neurologic (50%), but at diagnosis (6.4 years later) 67% of patients showed several clinical manifestations: hepatic, neurologic, renal and haematologic. Among the essential diagnostic indices we find false negative results for Kayser-Fleischer ring (25%), serum ceruloplasmin (8%) and total serum copper (34%). Ten patients were treated with penicillamine. This drug was effective and well tolerated, although one patient (10%) developed membranous nephritis and required to change successively to BAL and trien. In a 61 months follow-up 5 patients (42%) died from severe liver failure. Patients with poor prognosis had a diagnostic delay and a liver failure degree significantly greater than patients with good prognosis. Our results suggest the following conclusions: a) in Spain the prevalence rate of Wilson's disease is near the lower reported rate; b) the early diagnosis of Wilson's disease is rare; c) diagnosis should be made only when several essential indices are positive; d) early hepatic transplantation showed carried out in patients with acute or chronic severe liver failure.
Castellano
G
G
Departamento de Medicina Interna, Hospital Universitario Doce de Octubre, Madrid.
Blasco
A
A
Ballesta
F
F
Colina
F
F
Moreno
D
D
Franch
O
O
Urruzuno
P
P
Solís
J A
JA
D000367:Age Factors; D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000032:analysis; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology* / Q000401:mortality; D006801:Humans; D010396:Penicillamine / Q000008:administration & dosage / Q000009:adverse effects; D011379:Prognosis; D012189:Retrospective Studies; D012737:Sex Factors; D013030:Spain / Q000453:epidemiology
D003300:Copper; D002570:Ceruloplasmin; D010396:Penicillamine
Enfermedad de Wilson. Análisis retrospectivo de doce casos.