| Literature DB >> 18809982 |
S Balkema1, M E Hamaker, H P J Visser, G D N Heine, U Beuers.
Abstract
A 19-year-old female presented with haemolytic anaemia and subsequently developed liver failure. This raised suspicion of Wilson's disease, which was confirmed by Kayser-Fleischer rings, a low ceruloplasmin level, raised 24-hour urinary copper excretion and two mutations in the 'Wilson gene'. She was successfully treated with D-penicillamine and zinc. In young patients with unexplained haemolysis, liver dysfunction or neuro-psychiatric symptoms, Wilson's disease should be considered.Entities:
Mesh:
Year: 2008 PMID: 18809982
Source DB: PubMed Journal: Neth J Med ISSN: 0300-2977 Impact factor: 1.422