Xiong Qing-Fang, Zhou Hui, Yang Yong-Feng
Department of Liver Disease, The Second Hospital of Nanjing Nanjing University of Chinese Medicine Nanjing China.
JGH Open. 2020 May 16;4(5):1009-1011. doi: 10.1002/jgh3.12355. eCollection 2020 Oct.
Crigler-Najjar syndrome (CNs) is a rare hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin Uridine (UDP) glucuronosyltransferase family 1 member A1 (UGT1A1, ENSG00000241635) gene. Two patients were clinically diagnosed with Crigler-Najjar Syndrome types II (CNs-II) can be clinically diagnosed which were based on the level of total bilirubin, efficacy of phenobarbital treatment, normal liver architecture and exclusion of hemolysis. Diagnosis was also confirmed by UGT1A1 gene mutations, which by sequencing the coding region for UGT1A1 gene mutations, which were the homozygous mutations c.668G > A/p.Cys223Tyr and which caused less than 10% of activity of the enzyme. No data have been reported about this mutate in the population. These patients have a good prognosis and require no active intervention, indicating that an early accurate diagnosis is necessary for disease management and genetic counseling.
克里格勒-纳贾尔综合征（CNs）是一种罕见的遗传性非结合胆红素血症，由胆红素尿苷二磷酸（UDP）葡萄糖醛酸基转移酶家族1成员A1（UGT1A1，ENSG00000241635）基因突变引起。两名临床诊断为II型克里格勒-纳贾尔综合征（CNs-II）的患者可根据总胆红素水平、苯巴比妥治疗效果、正常肝脏结构以及排除溶血进行临床诊断。UGT1A1基因突变也证实了诊断，通过对UGT1A1基因突变的编码区进行测序，发现为纯合突变c.668G＞A/p.Cys223Tyr，导致该酶活性低于10%。人群中尚未有关于此突变的报道。这些患者预后良好，无需积极干预，这表明早期准确诊断对于疾病管理和遗传咨询是必要的。
