Gilbert综合征与UGT1A1基因突变的研究进展

Research Progress of Gilbert Syndrome and UGT1A1 Gene Mutation

摘要: Gilbert综合征(Gilbert syndrome, GS)是一种以反复、轻度高间接胆红素血症为特征的常染色体隐性遗传病，尿苷二磷酸葡糖醛酸基转移酶1A1 (uridine diphosphate glucuronosyl transferase 1A1, UGT1A1)基因突变所导致UGT1A1酶的活性降低是Gilbert综合征的主要发病机制。GS诊断主要依据临床表现及实验室检查，在排除溶血及其他肝脏疾病后进行UGT1A1基因检测确诊。UGT1A1的基因突变是确定不明来源的高胆红素血症病因的重要步骤，分子诊断避免了肝穿刺等侵袭性的诊断方法，在疾病早期即可建立正确的治疗程序。除肝脏疾病外，GS患者中UGT1A1基因突变还参与其他多系统疾病的发病及相关药物代谢过程。本文对GS诊治及UGT1A1基因突变与GS关系研究进展进行综述。

Abstract: Gilbert syndrome (GS) is an autosomal recessive genetic disorder characterized by recurrent and mild hyperindirect bilirubinemia. The decrease in the activity of uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) gene mutation is the main pathogenesis of Gilbert syndrome. The diag-nosis of GS was mainly based on clinical manifestations and laboratory examination, and was con-firmed by UGT1A1 gene test after hemolysis and other liver diseases were excluded. The mutation of UGT1A1 is an important step in identifying the etiology of hyperbilirubinemia of unknown origin. Molecular diagnosis avoids aggressive diagnostic methods such as liver puncture, and the correct treatment procedure can be established early in the disease. In addition to liver disease, UGT1A1 gene mutation in GS patients is also involved in the pathogenesis of other multi-system diseases and related drug metabolism. In this paper, the diagnosis and treatment of GS and the relationship be-tween UGT1A1 gene mutation and GS were reviewed.