1. Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease.
- Author
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Prochazkova D, Pouchla S, Mejzlik V, Kyr M, Zampachova V, and Hrstkova H
- Subjects
- Adolescent, Female, Hepatolenticular Degeneration complications, Hepatolenticular Degeneration surgery, Humans, Liver Transplantation, Anemia, Hemolytic etiology, Hepatolenticular Degeneration diagnosis, Liver Failure, Acute etiology
- 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).
- Published
- 2008