Gilbert综合征及其分子遗传学基础  

Gilbert＇s syndrome and molecular genetics basis

作　　者：宋华(综述)[1] 宋力(审校)[1] 

机构地区：[1]天津市儿童医院内科,300074

出　　处：《国际儿科学杂志》2010年第4期422-424,共3页International Journal of Pediatrics

摘　　要：Gilbert综合征是先天性、非溶血性、非结合性高胆红素血症.临床以间歇性轻度黄疸为特征.其发病机制主要是编码尿苷二磷酸葡萄糖苷酸基转移酶同工酶（UGT1A1）基因突变.此基因突变还可影响药物葡萄糖醛酸化,治疗剂量即可发生未预期的毒性.UGT1A1基因的检测对于Gilbert综合征的诊断、治疗和遗传咨询具有重要意义.Gilbert＇s syndrome is a congenital,nonhemolytic,unconjugated hyperbilirubinemia.The intermittent mild jaundice is its clinical characteristic.The pathogenesis of the disease is the gene mutation of the isoenzyme which encoding the UDP-glucuronosyltransferase （UGT1A1）.The gene mutation can affect glucuronic acidation of drugs.Therapeutic dose can cause unexpected toxicity.It is very important to detect the gene mutation of UGT1A1 for diagnosis,treatment and genetic counseling of Gilbert＇s syndrome.

关 键 词：GILBERT综合征 尿苷二磷酸葡萄糖醛酸转移酶 基因突变 

分 类 号：R575[医药卫生—消化系统]