克纳综合征Ⅰ型1例报告

摘要

Objective To explore the etiology, diagnosis, and treatment of Crigler-Najjar syndrome.Methods Clinical data of one pediatric patient with Crigler-Najjar syndrome was retrospectively analyzed.Results A 3-month-old boy was hospitalized for jaundice. His serum total bilirubin lfuctuated between 450.1~479.3 μmol/L with majority being non-conjugated bilirubin. The phototherapy effect was poor. He was clinically highly suspected of Crigler-Najjar syndrome type I. Detection of locus mutation in Exon1 of uridine diphosphoglucuronyl transferase (UGT) 1A1 gene further confirmed Crigler-Najjar syndrome type I. Patient died in liver transplantation.Conclusions Crigler-Najjar syndrome is a type of genetic disorder of bilirubin metabolism and is caused by mutation inUTG1A1 gene leading to the complete or partial loss of its enzymatic activity. The diagnosis is mainly based on clinical features, laboratory examinations, andUGT1A1 gene detection. It can be cured by liver transplantation. Gene therapy is an ideal method for the ultimate cure.%目的：探讨克纳综合征的病因、诊断、治疗。方法回顾性分析1例克纳综合征患儿的临床资料。结果患儿，男，3个月，因黄疸入院，患儿血清总胆红素波动于450.1~479.3μmol/L之间，以非结合胆红素为主，光疗效果欠佳，临床高度怀疑克纳综合征Ⅰ型；经尿苷二磷酸葡萄糖醛酸基转移酶（uridine diphosphoglucuronyl transferase，UGT）1A1基因检测Exon 1位点插入突变，确诊克纳综合征Ⅰ型。患儿于肝脏移植过程中死亡。结论克纳综合征由UGT 1 A 1基因突变使其酶活性完全或部分丧失而导致的遗传性胆红素代谢障碍性疾病，诊断主要是根据临床表现、实验室检查及UGT 1 A 1基因检测，肝移植手术可根治此病，基因治疗则是最终治愈的理想方法。