Unusual Gilbert's syndrome genotype in a Greek patient suffering from both Gilbert's syndrome and familial mediterranean fever. A case report.
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.
Kalotychou
V
V
First Department of Internal Medicine, University of Athens School of Medicine, Laikon University Hospital, Athens, Greece. vkalotyc@med.uoa.gr
Kanta
A
A
Rombos
Y
Y
Konstantopoulos
K
K
D000208:Acute Disease; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000150:complications*; D005260:Female; D005838:Genotype; D005878:Gilbert Disease / Q000150:complications* / Q000235:genetics*; D006115:Greece; D006801:Humans; D006932:Hyperbilirubinemia / Q000150:complications; D017354:Point Mutation / Q000235:genetics; D000071198:Pyrin; D055502:Secondary Prevention
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin