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...
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Published in | Bratislavské lékarské listy Vol. 109; no. 10; p. 434 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Slovakia
2008
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Subjects | |
Online Access | Get more information |
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Summary: | 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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ISSN: | 0006-9248 |