纯合子β地中海贫血合并胆石症和吉尔伯特综合征

Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia.

作者信息

Galanello R, Piras S, Barella S, Leoni G B, Cipollina M D, Perseu L, Cao A

机构信息

Ospedale Regionale Microcitemie, Dipartimento di Scienze Biomediche e Biotecnologie, University of Cagliari, Via Jenner s.n. 09121, Cagliari, Italy.

出版信息

Br J Haematol. 2001 Dec;115(4):926-8. doi: 10.1046/j.1365-2141.2001.03200.x.

DOI:10.1046/j.1365-2141.2001.03200.x

PMID:11843828

Abstract

Cholelithiasis has been reported with a variable incidence in homozygous beta-thalassaemia, the reasons for which have only partially been defined. Disease-associated factors or specific modifier genes may be implicated. We assessed the prevalence of cholelithiasis and the effect of co-inherited Gilbert's syndrome genotype on its development in 261 thalassaemia major (TM) and 35 thalassaemia intermedia (TI) patients. Cholelithiasis was found in 20.3% of TM and in 57.1% of TI patients. Its incidence was higher (P < 0.05) in patients homozygous for the (TA7) motif in the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients.

摘要

据报道，纯合子β地中海贫血患者胆石症的发病率各不相同，其原因仅部分明确。可能涉及疾病相关因素或特定修饰基因。我们评估了261例重型地中海贫血（TM）和35例中间型地中海贫血（TI）患者胆石症的患病率以及共同遗传的吉尔伯特综合征基因型对其发生的影响。在20.3%的TM患者和57.1%的TI患者中发现了胆石症。在UGT1 - A1基因启动子中（TA7）基序纯合的患者中，胆石症的发病率更高（P < 0.05），该基因型与吉尔伯特综合征相关，似乎是TM和TI患者发生胆结石的危险因素。