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遗传性非结合性高胆红素血症研究进展 被引量：1

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摘要 遗传性非结合性高胆红素血症是由尿苷二磷酸葡萄糖醛酸转移酶(uridine diphosphate glucuronosyl transferase 1A1,UGT1A1)基因突变所致的以非结合胆红素升高为主的高胆红素血症,临床以不同程度的黄疸为主要表现,没有溶血性疾病指征或肝功能异常指标。根据UGT1A1酶缺乏程度及血清非结合胆红素水平,分为Gilbert综合征、Crigler–Najjar综合征Ⅰ型及Ⅱ型。本文将对非结合性高胆红素血症UGT1A1基因研究进展、临床诊断、治疗和预后等方面进行综述。
作者 张颖 金玉
机构地区 南京医科大学附属儿童医院消化科
出处 《中国现代医生》 2022年第19期99-102,共4页 China Modern Doctor
关键词 遗传性非结合性高胆红素血症 UGT1A1基因 GILBERT综合征 Crigler–Najar综合征
分类号 R575 [医药卫生—消化系统]
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  • 1傅雯萍,刘义.UGT1A1 TATA突变对G6PD缺乏新生儿高胆红素血症的影响[J].广西医学院学报,2008,18(2):262-263. 被引量：3
  • 2Shabana Farheen,Sanghamitra Sengupta,Amal Santra,Suparna Pal,Gopal Krishna Dhali,Meenakshi Chakravorty,Partha P Majumder,Abhijit Chowdhury.Gilbert's syndrome: High frequency of the (TA)_7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene[J].World Journal of Gastroenterology,2006,12(14):2269-2275. 被引量：29
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中国现代医生
2022年 第19期

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