Citrin缺陷致婴儿肝内胆汁淤积症7例临床分析并文献复习  

Clinical analysis of 7 cases of neonatal intrahepatic cholestasis caused by Citrin deficiency and literature review

作　　者：张孟徐[1] 李春伟[1] 许松涛 陈功勋 王玉梅[1] ZHANG Mengxu;LI Chunwei;XU Songtao;CHEN Gongxun;WANG Yumei(Department of Pediatric Gastroenterology,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第三附属医院小儿消化科,河南郑州450052

出　　处：《胃肠病学和肝病学杂志》2022年第3期327-331,共5页Chinese Journal of Gastroenterology and Hepatology

基　　金：河南省医学科技攻关计划(联合共建项目)(LHGJ20190348)。

摘　　要：目的探讨Citrin缺陷致婴儿肝内胆汁淤积症(neonatal intrahepatic cholestasis caused by Citrin deficiency,NICCD)的临床特点、实验室检查及预后,并进行相关文献复习,进一步提高临床医师对该病的认识。方法收集2015年3月至2019年3月郑州大学第三附属医院小儿消化科收治的7例通过血尿串联质谱和基因检测确诊的Citrin缺陷症患儿的临床资料,回顾性分析一般情况、血生化结果、血尿串联质谱、基因检测及预后等情况。结果7例NICCD患儿中,男5例,女2例,年龄1~3月,均以不同程度的黄疸入院。7例患儿均行血生化、血串联质谱及基因检测。7例AST、TBA、TBIL、DBIL、GGT、AFP均有升高;6例TP及血清ALB有下降;2例ALT升高及凝血功能障碍。血串联质谱提示精氨酸、瓜氨酸、蛋氨酸升高为主,尿有机酸气相色谱-质谱分析主要表现为4-羟基苯乳酸、4-羟基苯丙酮酸升高。7例患儿均予无乳糖+高中链甘油三酯奶粉喂养,随访6例于1岁内症状缓解,肝功能恢复正常,1例好转时间不详。结论NICCD患儿均于3月以内因黄疸发病就诊,生化特点为胆汁淤积及代谢紊乱,基因检测可确诊,进行饮食干预及熊去氧胆酸应用后,预后良好。Objective To investigate the clinical characteristics,laboratory examinations and prognosis of neonatal intrahepatic cholestasis caused by Citrin deficiency(NICCD),and to review relevant literature to further improve clinicians′understanding of the disease.Methods The clinical data of 7 children admitted to the Department of Pediatrics Gastroenterology,the Third Affiliated Hospital of Zhengzhou University from Mar.2015 to Mar.2019 were collected.The clinical data of children with Citrin deficiency diagnosed by hematuria tandem mass spectrometry and genetic testing were collected,and the general conditions and blood biochemistry were retrospectively analyzed.Results 7 children with NICCD,5 males and 2 females,aged 1-3 months,were admitted to hospital with varying degrees of jaundice.All 7 children underwent blood biochemistry,hematuria tandem mass spectrometry and genetic testing.7 cases of AST,TBA,TBIL,DBIL,GGT,AFP all increased;6 cases of TP and serum ALB decline;2 cases of ALT increased and coagulation dysfunction.Blood tandem mass spectrometry showed that arginine,citrulline,methionine,and tyrosine were mainly elevated,and urinary organic acid gas chromatography-mass spectrometry analysis mainly showed that 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvate increased.All 7 children were fed with lactose-free+high-and medium-chain triglyceride milk powder.During follow-up,6 cases were followed up with symptoms resolved within 1 year old,liver function returned to normal,and 1 case′s improvement time was unknown.Conclusion All children with NICCD are treated with jaundice within 3 months.The biochemical characteristics are cholestasis and metabolic disorders.Genetic testing could confirm the diagnosis.After dietary intervention and ursodeoxycholic acid application,the prognosis is good.

关 键 词：CITRIN缺陷 肝内胆汁淤积 生化分析 基因检测 预后 

分 类 号：R575[医药卫生—消化系统]