Wilson's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Wilson's Disease, including details on treatment, causes, symptoms, medication.

Direct diagnosis of Wilson disease by molecular genetics.

Caprai S, Loudianos G, Massei F, Gori L, Lovicu M, Maggiore G

Unità di Gastroenterologia ed Epatologia, Azienda Ospedaliera Universitaria di Pisa, Dipartimento di Medicina della Procreazione e dell'Età Evolutiva, University of Pisa, Italy.

In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease, especially those with features of nonalcoholic fatty liver disease.

Published 20 January 2006 in J Pediatr, 148(1): 138-40.
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