title: Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease.
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).
authors.affiliation: 1st Department of Paediatrics, University Hospital Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic. prochazkova@fnbrno.cz
authors.forename: D
authors.initials: D
authors.lastname: Prochazkova
authors.forename: S
authors.initials: S
authors.lastname: Pouchla
authors.forename: V
authors.initials: V
authors.lastname: Mejzlik
authors.forename: M
authors.initials: M
authors.lastname: Kyr
authors.forename: V
authors.initials: V
authors.lastname: Zampachova
authors.forename: H
authors.initials: H
authors.lastname: Hrstkova
mesh_terms: 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