Document Detail


Unusual Gilbert's syndrome genotype in a Greek patient suffering from both Gilbert's syndrome and familial mediterranean fever. A case report.
MedLine Citation:
PMID:  18511900     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
V Kalotychou; A Kanta; Y Rombos; K Konstantopoulos
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Minerva pediatrica     Volume:  60     ISSN:  0026-4946     ISO Abbreviation:  Minerva Pediatr.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-05-30     Completed Date:  2008-10-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0400740     Medline TA:  Minerva Pediatr     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  469-72     Citation Subset:  IM    
Affiliation:
First Department of Internal Medicine, University of Athens School of Medicine, Laikon University Hospital, Athens, Greece. vkalotyc@med.uoa.gr
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
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:
0/Cytoskeletal Proteins; 0/marenostrin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Dandy-Walker syndrome together with occipital encephalocele.
Next Document:  From the newborn infant to the child, to the adult: historia magistra vitae