Crigler-Najjar综合征Ⅱ型患者的临床、肝脏病理特征及突变基因分析  

Clinical and liver pathological features and mutation of UGT1A1 Gene in a case with Crigler-Najjar Syndrome typeⅡ

作　　者：徐静 董源 王寿明 郝坤艳 于乐成 XU jing;DONG yuan;WANG Shou-ming;HAO Kun-yan;YU Yue-cheng(Department of Infectious,Qinhuai Medical Treatment Area,Eastern Theater General Hospital,Nanjing 210002,China)

机构地区：[1]东部战区总医院秦淮医疗区感染科,江苏南京210002

出　　处：《肝脏》2022年第8期908-911,共4页Chinese Hepatology

摘　　要：目的 了解Crigler-Najjar综合征Ⅱ型的遗传特点及诊断方法。方法 收集1例Crigler-Najjar综合征Ⅱ型患者的病史资料、肝脏生化、影像学结果、肝脏病理资料及本人与父母的UGT1A1的基因测序结果。结果 Crigler-Najjar综合征Ⅱ型患者的胆红素升高通常大于5倍正常值上限,为间接胆红素明显升高,ALT、AST均正常,病理未见肝细胞炎症坏死,患者为UGT1A1的基因检测示第5外显子c.1456T>G(p.Tyr486Asp)的纯合突变,其父母均为该突变的杂合子。苯巴比妥诱导治疗有效。结论 c.1456T>G(p.Tyr486Asp)的基因突变为本例患者及其家系的致病基因,患者为常染色体隐性遗传性疾病,表现为间接胆红素明显升高,肝脏无炎症损伤,苯巴比妥诱导有效。Objective Through analyzing the clinical,liver pathology and family uridine diphosphate glucuronosyltransferase 1A1(UGT1A1)gene mutation characteristics of a patient with hereditary hyperbilirubinemia,in order to understand the genetic characteristics and diagnostic methods of Crigler-Najjar Syndrome typeⅡ.Methods The medical history,liver biochemistry,imaging examination results,liver pathological data of a patient with Crigler-Najjar Syndrome typeⅡwere collected,we also analyzed the UGT1A1 gene sequencing results of this patient and his parents.Results The increase of bilirubin in patients with Crigler-Najjar Syndrome typeⅡwas usually greater than 5 times the upper limit of normal value,which was a significant increase in indirect bilirubin(IBIL).ALT and AST of the patient were normal,inflammation and necrosis of hepatocytes were seldom in hepatic pathology from the patient.The patient was a homozygous mutation in UGT1A1 gene Exon 5 c.1456T>G(p.Tyr486Asp),and heterozygotes of the mutation were found in his parents.The treatment of Phenobarbital was effective.Conclusion Missense mutation of Tyr486Asp in Exon 5 of UGT1A1 gene is the pathogenic factor of this patient with Crigler-Najjar Syndrome typeⅡand his family,which is autosomal recessive inheritance,with significantly increased IBIL.There is no inflammatory injury in the liver,and phenobarbital induction is effective.

关 键 词：Crigler-Najjar综合征Ⅱ型 尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1) 肝脏病理 

分 类 号：R575[医药卫生—消化系统]