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Rivista di Pediatria, Neonatologia, Medicina dell’Adolescenza
e Neuropsichiatria Infantile
Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
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Minerva Pediatrica 2008 August;60(4):469-72
Sindrome di Gilbert con genotipo insolito in un paziente greco affetto sia da sindrome di Gilbert che da febbre mediterranea familiare: descrizione di un caso clinico
Kalotychou V., Kanta A., Rombos Y., Konstantopou-los K.
First Department of Internal Medicine University of Athens School of Medicine, Laikon University Hospital, Athens, Greece
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.