Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease.
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).
Prochazkova
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1st Department of Paediatrics, University Hospital Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic. prochazkova@fnbrno.cz
Pouchla
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S
Mejzlik
V
V
Kyr
M
M
Zampachova
V
V
Hrstkova
H
H
D000293:Adolescent; D000743:Anemia, Hemolytic / Q000209:etiology*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D017114:Liver Failure, Acute / Q000209:etiology*; D016031:Liver Transplantation