| Unusual Gilbert's syndrome genotype in a Greek patient suffering from both Gilbert's syndrome and familial mediterranean fever. A case report. | |
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MedLine Citation:
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PMID: 18511900 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Gilbert's syndrome is a genetically controlled non-hemolytic unconjugated hyperbilirubinemia, caused by reduced activity of UDP-glucoroniltransferase 1, an enzyme critical in bilirubin metabolism. Several molecular configurations may be implicated in a Gilbert's phenotype. Familial mediterranean fever (FMF) is an inherited acute relapsing inflammatory disorder, affecting Mediterranean and Middle East populations. The molecular basis of the disorder concerns the MEFV gene coding for a protein named pyrin; several point mutations of MEFV gene have been associated with the disease. The authors present an unusual patient co-affected by both Gilbert's syndrome and FMF who carried a peculiar Gilbert's genotype. The coexistence of these two genetic conditions seems to be rare but interesting as the potentially overlapping clinical symptoms may rise interesting diagnostic problems. |
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Authors:
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V Kalotychou; A Kanta; Y Rombos; K Konstantopoulos |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Minerva pediatrica Volume: 60 ISSN: 0026-4946 ISO Abbreviation: Minerva Pediatr. Publication Date: 2008 Aug |
Date Detail:
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Created Date: 2008-05-30 Completed Date: 2008-10-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0400740 Medline TA: Minerva Pediatr Country: Italy |
Other Details:
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Languages: eng Pagination: 469-72 Citation Subset: IM |
Affiliation:
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First Department of Internal Medicine, University of Athens School of Medicine, Laikon University Hospital, Athens, Greece. vkalotyc@med.uoa.gr |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acute Disease Child Cytoskeletal Proteins / genetics* Familial Mediterranean Fever / complications* Female Genotype* Gilbert Disease / complications*, genetics* Greece Humans Hyperbilirubinemia / complications Point Mutation / genetics Recurrence / prevention & control |
| Chemical | |
Reg. No./Substance:
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0/Cytoskeletal Proteins; 0/marenostrin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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