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Crigler-Najjar(CN)病是一种罕见的以肝脏胆红素二磷酸尿苷葡萄糖转移酶(UDPG-T)活力持久性缺乏力特征的代谢性疾病。临床上分为两型,Ⅱ型可因苯巴比妥的治疗而使血清胆红素浓度明显下降,Ⅰ型则不能。在新生儿核黄疸典型症状中,不管是否是GN病,均无显著的小脑症状。病例例1男婴,足月顺产,出生体重3 600g,双亲无血缘关系,二位姐姐均健康。生后第二天因黄疸住院血清总胆红素507μmol/L,均为非结合胆红素,经换血、光疗,黄疸未退,试用苯巴比妥也无效(血清胆红素浓度范围为245~300μmol/L),3月龄时测肝的胆红素
Crigler-Najjar (CN) disease is a rare metabolic disease characterized by persistent persistent deficiency of liver bilirubin dipephosphate glucose transferase (UDPG-T) activity. Clinically divided into two types, type Ⅱ due to the treatment of phenobarbital serum bilirubin concentration decreased significantly, type I can not. In the typical neonatal kernicterus syndrome, no significant cerebellar symptoms were observed whether it was GN disease or not. Case 1 baby boy, full-term birth, birth weight 3 600g, no blood relationship between parents, two sisters are healthy. The second day after birth due to jaundice serum total bilirubin 507μmol / L, are non-conjugated bilirubin, after transfusions, phototherapy, jaundice did not withdraw, try phenobarbital also invalid (serum bilirubin concentration range of 245 ~ 300μmol / L), measured at 3 months of liver bilirubin