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.
First Department of Internal Medicine, University of Athens School of Medicine, Laikon University Hospital, Athens, Greece. vkalotyc@med.uoa.gr
V
V
Kalotychou
A
A
Kanta
Y
Y
Rombos
K
K
Konstantopoulos
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