串联质谱检测酰基肉碱和氨基酸在鉴别婴儿黄疸中的应用  

The measurement to bloodspot amino acids and acyl carnitines using tandem mass spectrometry in identification of infantile jaundice

作　　者：龚振华[1] 田国力[1] 吕志宝[1] 景虹[1] 胡志红[1] 李敏[1] 

机构地区：[1]上海市儿童医院上海交通大学附属儿童医院小儿外科,200040

出　　处：《中华小儿外科杂志》2012年第3期201-205,共5页Chinese Journal of Pediatric Surgery

摘　　要：目的串联质谱检测筛查滤纸血片中氨基酸、肉碱和酰基肉碱鉴别诊断胆道闭锁和胆汁淤积症。方法研究对象是年龄大于1个月，小于5个月的黄疸患儿。胆道闭锁组（BA）13例；胆汁淤积症（IC）12例；婴儿肝炎综合征13例。采用31例同年龄段的无肝病的门诊小手术患儿等作为对照组。非衍生化法前处理标本，串联质谱检测11种氨基酸、游离肉碱和30种脂酰基肉碱。结果BA组血中游离肉碱（66±20）μmol／L，显著高于IC组的（50±19）μmol／L（P〈0．05）；和对照组的（30±10）〉μmol／L（P〈0．01）。用游离肉碱增高作为诊断BA的指标，其ROC曲线下面积（0．862），优于总胆红素、直接胆红素/总胆红素、碱性磷酸酶和总胆酸。BA组和IC组甘氨酸、丙氨酸、酪氨酸、苯丙氨酸、鸟氨酸、蛋氨酸等显著高于对照组；IC组亮氨酸（88±27）μmol／L、缬氨酸（90±31）μmol／L、（亮氨酸＋缬氨酸）／酪氨酸之比2．70±0．82，显著低于BA组的（115±28）μmol／L、（116±27）μmol／L,3.51±0．83，P〈0．05和对照组的（106±31）μmol／L、（103±26）μmol／L、4．29±0．94。结论串联质谱检测血中氨基酸、游离肉碱和脂酰基肉碱对鉴别婴幼儿黄疽有很高的参考价值。Objective To identify infantile jaundice by measurement of bloodspot amino acids and acyl carnitines using tandem mass spectrometry（MS/MS）, through which we explore the method to distinguish the biliary atresia （BA） from intrahepatic cholestasis （IC）. Methods All subjects were aged from 1 to 5 months, including I3 cases of BA and 12 cases of IC, as well as 13 patients with idio- pathic neonatal hepatitis. 31 patients without any hepatic diseases were set as control. The concentra- tions of 11 kinds of amino acids, free carnitine （G0）and 30 kinds of acylcarnitines were measured using MS/MS. Results The concentration of G, was 66 ±20μmol/L in BA group, which was much higher than IC group （50± 19 μmol/L） and control （30 ±10μmol/L）. The curve area under the ROC of G, for diagnosis of BA was higher than ratio of direct-bilirubin to total-bilirubin, total billrubin, alkaline phosphatase, and total cholic acid respectively. The concentrations of methionine, phenylalanine, tyrosine, citrulline, ornithine, and glycine, as well as alanine in BA and IC were significantly higher than control. The concentrations of leucine （88 ±27μmol/L）, valine （90±31 μmol/L） and the ratio of leucine with valine to tyrosine was 2.70 ± 0. 82 in IC group, which was respectively lower than BA group （115 ±28 μmol/I., 116 ± 27 μmol/L, 3.51 ± 1）. 83） and control （106 ± 31 μmol/L, 103 ± 26 μmol/L, 4. 29± 0. 94） significantly （P〈0. 01 ）. Conclusions Bloodspot concentrations measure and comparison of amino acids, free carnitine and acylearnitines changes in BA and IC are useful to distin- guish infantile jaundice.

关 键 词：串联质谱法 氨基酸类 肉碱 胆道闭锁 胆汁淤积 

分 类 号：R725.7[医药卫生—儿科]