UGT1A1-related Bilirubin Encephalopathy/Kernicterus in Adults
作者机构：Fourth Department of Liver Disease(Difficult&Complicated Liver Diseases and Artificial Liver Center)Beijing You’an Hospital Affiliated to Capital Medical UniversityBeijingChina Beijing Municipal Key Laboratory of Liver Failure and Artificial Liver Treatment ResearchBeijingChina Department of PathologyBeijing You’an HospitalCapital Medical UniversityBeijingChina Department of RadiologyBeijing You’an HospitalCapital Medical UniversityBeijingChina
出 版 物：《Journal of Clinical and Translational Hepatology》 (临床与转化肝病杂志（英文版）)
年 卷 期：2021年第9卷第2期
页 面：180-186页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：This study was supported by Beijing Municipal Science and Technology Project(No.Z171100002217070) National Key R&D Program of China(No.2017YFA0103000) National Science and Technology Key Project on“Major Infectious Diseases such as HIV/AIDS,Viral Hepatitis Prevention and Treatment”(Nos.2012ZX10002004-006,2017ZX10203201-005,2017ZX10201201,2017ZX10202203-006-001 and 2017ZX 10302201-004-002) “Beijing Municipal Administration of Hospitals”Ascent Plan(No.DFL20151601) Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support(Nos.ZYLX201806 and ZYLX202125) Digestive Medical Coordinated Development Center of Beijing Municipal Administration of Hospitals(No.XXZ0503) You An Fund for Liver Diseases and AIDS(No.YNKTTS201801189) Beijing Municipal Natural Science Foun-dation(No.7202068)
主 题：Kernicterus UGT1A1 Crigler-Najjar syndrome type II Phenobar-bital
摘 要：Background and Aims:Bilirubin encephalopathy/kernicterus is very rare in *** study is aimed to investigate the clinical manifestations and genetic features of two patients with UGT1A1-related ***:Sanger sequencing analysis was performed to identify UGT1A1 gene mutations in the patients and their *** analysis was used to predict the potential functional effects of novel missense *** manifestations and biochemical parameters were collected and ***:Two patients with Crigler-Najjar syndrome type II(CNS2)developed kernicterus in *** sequencing identified a compound heterozygous mutation in the UGT1A1 gene in patient 1,which was inherited from his mother(G71R)and his father(c.-3279TG;S191F).Patient 2 carried three heterozygous mutations,namely G71R,R209W and M391K;among which,the M391K mutation has not been reported *** prediction software showed that the M391K mutation was *** were relieved in the two patients after phenobarbital and artificial liver support *** 1 also underwent liver ***:Adults with CNS2 are at risk for *** treatment is beneficial for maintaining bilirubin levels and preventing kernicterus.
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