Presentación clínica, diagnóstico y evolución a largo plazo en 29 pacientes con enfermedad de Wilson

Abstract

In our region patients with WD are diagnosed at a younger age, and in most cases for hepatic disease. Patients with neurological disease or liver cirrhosis had a high level of free copper not associated to ceruloplasmin and cupruria. The disease had a favorable evolution in all patients but those diagnosed with hepatic disease or advanced neurological disease.

Wilson Disease: Canadian Perspectives on Presentation And Outcomes from an Adult Ambulatory Setting

“…Eighty-one per cent of our patients with neurological/mixed presentation had documented KF rings. While this is lower than numbers reported by others (8,(13)(14)(15)(16), our four neurological or mixed patients without documented KF rings were diagnosed at other clinics and no records pertaining to the testing for KF rings could be found. Among patients with hepatic or asymptomatic presentation, the presence of KF rings was substantially lower, reinforcing the fact that KF rings are not a sensitive test in diagnosing non-neurological WD.…”