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61Cu liver uptake in Wilson disease studied with PET
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Medical Sciences.
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Manuscript (Other academic)
URN: urn:nbn:se:uu:diva-95658OAI: oai:DiVA.org:uu-95658DiVA: diva2:169961
Available from: 2007-04-05 Created: 2007-04-05 Last updated: 2010-01-13Bibliographically approved
In thesis
1. Genetical and Clinical Studies in Wilson's Disease
Open this publication in new window or tab >>Genetical and Clinical Studies in Wilson's Disease
2007 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Wilson’s disease is a rare inborn error of metabolism caused by a defect in ATP7B, a protein necessary for proper copper excretion into bile. It is characterised by copper accumulation with hepatic and central nervous system dysfunction.

We investigated 24 Swedish families with Wilson’s disease by sequencing the entire coding sequence using a new technique called manifold sequencing. Disease causing mutations were found in 44 out of 48 alleles.

From data obtained in the first study, the two most common mutations (C3207A and C2930T) were sought in 2640 anonymous DNA samples from a Swedish population, using a pooling strategy and solid-phase minisequencing. Four C3207A and one C2930T were found. From the number of C3207A, a prevalence of Wilson’s disease in Sweden of about 1 in 110,000 could be estimated.

Four groups with three patients each had four different genotypes concerning mutations in ATP7B. The patients’ psychopathological symptoms were investigated, using the Karolinska Scales of Personality rating (KSP) and Comprehensive Psychopathological Rating Scale (CPRS). A trend towards lower CPRS scores was seen in the groups with mutations known to render ATP7B completely without activity.

Using 61Cu liver PET in patients homozygous for mutations in ATP7B, heterozygotes, normal individuals and two patients with alcoholic liver cirrhosis, significantly slower uptake was seen in the homozygotes as compared to the heterozygotes and normal individuals. The patients with cirrhosis had values in between. This implies that 61Cu liver PET might be used as an additional rapid and little invasive diagnostic tool in Wilson’s disease.

In a retrospectively studied cohort consisting of 363 patients followed in Sweden and the UK, nine cases of aggressive intra-abdominal malignancies were seen, which is more than expected. Caution should be taken in the follow-up of Wilson’s disease patients.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2007. 46 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 246
Internal medicine, copper radioisotopes, DNA sequence analyses, genotype, hepatolenticular degeneration, neoplasms, phenotype, positron-emission tomography, psychopathology, Invärtesmedicin
urn:nbn:se:uu:diva-7779 (URN)978-91-554-6845-3 (ISBN)
Public defence
2007-04-26, Robergsalen, Entrance 40, Akademiska sjukhuset, Uppsala, 09:15
Available from: 2007-04-05 Created: 2007-04-05Bibliographically approved

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