259例Gilbert综合征UGT1A1基因检测分析  

Analysis of UGT1A1 gene detection in 259 cases of Gilbert syndrome

作　　者：冯家立 章莉莎[2] FENG Jia-li;ZHANG Li-sha(Department of laboratory medicine,Tongji Hospital,Tongji Medical college,Huazhong University of Science and Technology,Wuhan Hubei,430030 China;不详)

机构地区：[1]华中科技大学同济医学院附属同济医院检验科,湖北武汉430030 [2]华中科技大学同济医学院附属同济医院健康管理中心

出　　处：《中西医结合肝病杂志》2022年第12期1127-1129,共3页Chinese Journal of Integrated Traditional and Western Medicine on Liver Diseases

摘　　要：目的:探讨Gilbert综合征的临床和遗传学特点,提高对Gilbert综合征基因分型的认识和诊断水平。方法:回顾性分析259例Gilbert综合征患者的临床资料,包括实验室检查、基因检测结果。结果:259例患者男性多于女性,最小年龄为17岁,最大年龄为69岁,平均42.8岁,所有患者总胆红素增高,以间接胆红素增高为主,血常规、肝功能、腹部B超结果均正常。259例患者高胆红素血症易感基因位点检测均检测出UGT1A1基因外显子突变。结论:Gilbert综合征是临床少见的先天性黄疸,临床诊断缺乏特异性,以慢性非结合胆红素增高为特征。目前认为Gilbert综合征诊断的金标准是UGT1A1基因检测。Objective:Explore the clinical and genetic characteristics of Gilbert syndrome,and improve the understanding and diagnosis of Gilbert syndrome genotyping.Methods:The clinical data of 259 Gilbert syndrome patients were retrospectively analyzed,including laboratory tests and genetic test results.Results:There were more men than women in all 259 patients.The mean age of these patients was 42.8 years,with a minimum age of 17 years and a maximum age of 69 years.All patients had increased total bilirubin,mainly indirect bilirubin,while the results of blood routine,liver function,and abdominal ultrasound were normal.The detection of hyperbilirubinemia susceptibility gene loci in 259 patients all detected UGT1A1 gene exon mutations.Conclusion:Gilbert syndrome is a rare congenital jaundice.Its clinical diagnosis lacks specificity and is characterized by chronic unconjugated bilirubin elevation.At present,the gold standard for the diagnosis of Gilbert syndrome is UGT1A1 gene detection.

关 键 词：GILBERT综合征 基因诊断 临床分析 

分 类 号：R446.119[医药卫生—诊断学]