Citrin缺陷致肝内胆汁淤积症患儿的血串联质谱及尿气相色谱分析  

Tandem mass spectrometry and gas chromatography-mass spectrometry analysis in neonatal intrahepatic cholestasis caused by Citrin deficiency

作　　者：伍秋频[1] 王琳琳[1] 陈秀奇[1] 唐清[1] 单庆文[1] 黄丽[1] 连淑君[1] 云翔[1] 高国鹏[1] 

机构地区：[1]广西医科大学第一附属医院,南宁530021

出　　处：《山东医药》2013年第15期13-15,共3页Shandong Medical Journal

基　　金：广西壮族自治区自然科学基金资助项目(2011jjA40108)

摘　　要：目的探讨Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)的诊断方法。方法婴儿胆汁淤积、黄疸63例,其中确诊为NICCD 5例。对确诊患儿的临床表现、常规实验室检查结果、血串联质谱和尿气相色谱进行分析。结果 NICCD患儿临床表现为黄疸,不同程度的肝脾肿大,肝功能异常并伴有凝血功能异常、高氨血症、高甲胎蛋白、不同程度贫血。血串联质谱分析发现患儿瓜氨酸、甲硫氨酸、苏氨酸、酪氨酸水平升高,长链酰基肉碱C14、C16水平升高。尿气相色谱有机酸分析发现患儿苯乳酸-2、尿4-羟基苯乳酸、4-羟基苯丙酮酸和4-羟基苯乙酸水平升高。结论 NICCD早期临床表现及常规实验室检查结果无特异性,早期进行血串联质谱分析、尿气象色谱分析对明确NICCD的诊断具有重要意义。Objective To investigate the diagnostic methods of neonatal intrahepatic cholestasis caused by Citrin defi- ciency （NICCD）. Methods In this study, there were 63 cases with neonatal cholestasis and jaundice and five cases were confirmed NICCD. Clinical features, laboratory examination, tandem mass spectrometry （MS-MS） and gas chromatogra- phy-mass spectrometry（GS-MS） of the NICCD patients were analyzed. Results The children diagnosed NICCD were char- acterized by jaundice and varying degrees of hepatosplenomegaly, the abnormal liver function with abnormal blood coagula- tion function, hyperammonemia, high alphafetoprotein and varying degrees of anemia. MS-MS analysis of the blood sample revealed distinctive elevation of citrulline, methionine, threonine, and tyrosine. Meanwhile, long-chain acylcarnitines, C14-carnitine, and C16-carnitine were increased. Additionally, GC-MS analysis of urine samples showed phenyl-lactic acid-2, 4-hydroxyl phenyllactic acid, 4-hydroxyl phenylphruvie acid and 4-hydroxyl phenylacetic acid were elevated. Con- clusions There is no special sign in the clinical features and conventional laboratory analysis in the early stage of NICCD patients. Therefore, analysis of the MS-MS and GS-MS for infants which characterized by jaundice and varying degrees of hepatosplenomegaly is essential for NICCD.

关 键 词：CITRIN缺陷 新生儿 肝内胆汁淤积症 

分 类 号：R725.7[医药卫生—儿科]