Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation
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CitationEur J Gastroenterol Hepatol. 2001, 13(4):433-6
AbstractWilson's disease, an autosomal recessive disorder of copper transport, usually presents with symptoms from the liver or central nervous system. Rarely, the initial manifestation is fulminant hepatic failure. The abnormal gene (ATP7B) is located on chromosome 13q and encodes a copper-transporting ATPase. A large number of mutations have been reported. We describe a previously healthy 16-year-old girl who presented with fulminant hepatic failure. The girl died within 24 h of admission to a hospital from refractory shock. Autopsy revealed cirrhosis and widespread necrosis of the liver. The copper content of the liver was markedly increased (975 micrograms/g dry weight), strongly suggesting a diagnosis of Wilson's disease. Genetic studies revealed that the girl was homozygous for the mutation 2007 del7, which is the mutation found in all Wilson's disease patients previously identified in Iceland. This is the first known case of fulminant hepatic failure due to Wilson's disease in Iceland. Despite the same mutation, the clinical picture is vastly different from other Icelandic patients with Wilson's disease, who all presented with relatively late-onset neurological disease. This suggests that factors other than the specific mutation have significant impact on the phenotype of the disease.
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