Source: Archives of Disease in Childhood: Education and Practice Edition; Dec 2017; vol. 102 (no. 6); p. 319-326
Publication Date: Dec 2017
Publication Type(s): Article
Available at Archives of Disease in Childhood: Education and Practice Edition - from BMJ Journals - NHS
Abstract:In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson's disease (WD) is one such condition that is caused by mutations in the ATP7B gene. Delay in treatment could result in irreversible disability or even death. Although liver disease is the most common presenting feature in children, some children may initially present with a subtle neurological presentation only. In patients presenting with dystonia, tremor, dysarthria or with a deterioration in school performance, there should be a high index of suspicion for WD. However, the differential of these clinical presentations is wide and exclusion of WD is difficult. No single diagnostic test can exclude WD and each of the biochemical tests has limitations. In this article, we discuss copper metabolism disorders including WD and Menke's disease. We then discuss the available diagnostic tests and how to investigate children for these rare disorders. Copyright © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved.