国际生殖健康/计划生育杂志2026，Vol.45Issue(2)：120-124,5.DOI:10.12280/gjszjk.20250438
Crigler-Najjar综合征新生儿病理性黄疸二例
Two Cases of Pathological Jaundice in Neonates with Crigler-Najjar Syndrome
兰雪 1常桐嘉 1翟惟鼎 1孙妍1
作者信息
- 1. 150001 哈尔滨医科大学附属第一医院新生儿科
- 折叠
摘要
Abstract
We report two cases of Crigler-Najjar syndrome(CNS).Both children presented with recurrent neonatal pathological jaundice with the increased unconjugated bilirubin.During the treatment period,blue light photo therapy was effective.However,the condition of pathological jaundice relapsed after the treatment was stopped.Genetic testing revealed respectively a homozygous mutation of c.1091C>T(p.Pro364Leu)in the uridine diphosphate glucuronosyl transferase 1A1(UGT1A1)gene in one child,and a homozygous mutation of c.211G>A(p.Gly71Arg)combined with a heterozygous mutation of c.322C>T(p.Arg108Cys)in another one.Based on the family history,comprehensive clinical manifestations,and genetic testing,both children were diagnosed with CNS Ⅱ.CNS is a rare genetic disorder caused by mutations in the UGT1A1 gene.Genetic testing is the key to diagnosis.For neonatal recurrent pathological jaundice with the increased unconjugated bilirubin,this genetic disease should be suspected,and genetic testing should be completed as soon as possible.Early identification and individualized treatment can significantly improve the prognosis and reduce the rate of neonatal disability and mortality.关键词
Crigler-Najjar综合征/黄疸,新生儿/高胆红素血症,新生儿/UGT1A1基因Key words
Crigler-Najjar syndrome/Jaundice,neonatal/Hyperbilirubinemia,neonatal/UGT1A1 gene引用本文复制引用
兰雪,常桐嘉,翟惟鼎,孙妍..Crigler-Najjar综合征新生儿病理性黄疸二例[J].国际生殖健康/计划生育杂志,2026,45(2):120-124,5.
