RESUMO
Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further evaluation, the 25-year-old female patient was found to have HS combined with UGT1A1 deficiency. Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important, reflecting the therapeutic implication of splenectomy and cholecystectomy.
Assuntos
Adulto , Feminino , Humanos , Síndrome de Crigler-Najjar/genética , Glucuronosiltransferase/deficiência , Heterozigoto , Homozigoto , Icterícia/etiologia , Mutação de Sentido Incorreto/genética , Mutação Puntual/genética , Esferocitose Hereditária/complicações , Esplenectomia/efeitos adversosRESUMO
WithquantitativeRT-PCRtechnique,thelevels of OB-Ra and OB-Rb mRNA expression at 24 h incubation with various concentrations of dexametnasone were measured. Increases of OB-Ra and OB-Rb mRNA expressions in HepG2 cells were found.