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Published on: November 27, 2019
Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease
D Prochazkova1, S Pouchla, V Mejzlik
11st Department of Paediatrics, University Hospital Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic. prochazkova@fnbrno.cz
Abstract:
We describe a case of a 16-year-old girl with Wilson disease, which was initially presented as Coombs-negative haemolytic anaemia and acute liver failure. The diagnosis was based on the findings of low ceruloplasmin serum level and high copper levels both in serum and 24-hour urinary excretion. The patient underwent orthotopic liver transplantation. A DNA-based diagnostic tool confirmed Wilson's disease: the patient was p.H1069Q homozygote. Based on further molecular-genetic examinations in the family, Wilson disease was diagnosed seven days later in one of the patient's asymptomatic brothers. The proband's cousin was confirmed as a carrier of the p.H1069Q mutation (Fig. 1, Ref. 24).
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