| Iron metabolism and the role of HFE gene polymorphisms in Wilson disease. | |
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MedLine Citation:
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PMID: 22098612 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PATIENTS AND METHODS: Data from 143 patients with WD were analysed. Clinical presentation, liver function and iron metabolism parameters were recorded. Blood samples of the patients were analysed for HFE gene alterations (H63D; C282Y). Twenty-seven liver biopsies of these patients were studied with regard to iron content and fibrosis score. RESULTS: Contrary to previous reports of HFE gene polymorphisms in WD patients, in our cohort the allele frequencies (C282Y: 2.1%; H63D: 7.3%) were in line with frequencies obtained for general population. Male WD patients with decreased serum ceruloplasmin (Cp), showed increased serum ferritin levels. Hepatic iron content was normal in most cases. DISCUSSION: Male patients with very low Cp serum concentrations showed slightly elevated median serum ferritin concentrations, probably related to lack of ferroxidase acitivity. However, in consideration of absolute numbers of ferritin concentrations, these changes seem to be of minor clinical relevance. |
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Authors:
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Jan Pfeiffenberger; Daniel N Gotthardt; Thomas Herrmann; Jessica Seessle; Uta Merle; Peter Schirmacher; Wolfgang Stremmel; Karl Heinz Weiss |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2011-10-17 |
Journal Detail:
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Title: Liver international : official journal of the International Association for the Study of the Liver Volume: 32 ISSN: 1478-3231 ISO Abbreviation: Liver Int. Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2011-12-14 Completed Date: 2012-04-19 Revised Date: 2012-05-10 |
Medline Journal Info:
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Nlm Unique ID: 101160857 Medline TA: Liver Int Country: England |
Other Details:
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Languages: eng Pagination: 165-70 Citation Subset: IM |
Copyright Information:
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© 2011 John Wiley & Sons A/S. |
Affiliation:
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Department of Gastroenterology, University Hospital Heidelberg, Heidelberg, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Biopsy Ceruloplasmin / metabolism Female Ferritins / blood Gene Frequency Hepatolenticular Degeneration / diagnosis, genetics*, metabolism* Histocompatibility Antigens Class I / genetics*, metabolism Humans Iron / analysis, metabolism* Liver / chemistry, metabolism, pathology Liver Cirrhosis / genetics, metabolism, pathology Male Membrane Proteins / genetics*, metabolism Polymorphism, Genetic* Sex Factors Young Adult |
| Chemical | |
Reg. No./Substance:
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0/HFE protein, human; 0/Histocompatibility Antigens Class I; 0/Membrane Proteins; 7439-89-6/Iron; 9007-73-2/Ferritins; EC 1.16.3.1/Ceruloplasmin |
| Comments/Corrections | |
Comment In:
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Liver Int. 2012 May;32(5):869-70; author reply 870
[PMID:
22292432
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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