CAJ | 학술논문

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)μμmol/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疸有很高的参考价值.
목적 천련질보검측사사려지혈편중안기산、육감화선기육감감별진단담도폐쇄화담즙어적증.방법 연구대상시년령대우1개월,소우5개월적황달환인.담도폐쇄조(BA) 13례；담즙어적증(IC) 12례；영인간염종합정13례.채용31례동년령단적무간병적문진소수술환인등작위대조조.비연생화법전처리표본,천련질보검측11충안기산、유리육감화30충지선기육감.결과 BA조혈중유리육감(66±20) μmol/L,현저고우IC조적(50±19)μμmol/L(P＜0.05)；화대조조적(30±10)μmol/L(P＜0.01).용유리육감증고작위진단BA적지표,기ROC곡선하면적(0.862),우우총담홍소、직접담홍소/총담홍소、감성린산매화총담산.BA조화IC조감안산、병안산、락안산、분병안산、조안산、단안산등현저고우대조조；IC조량안산(88±27)μmol/L、힐안산(90±31) μmol/L、(량안산+힐안산)/락안산지비2.70±0.82,현저저우BA조적(115±28 )μmol/L、(116±27)μmol/L、3.51±0.83,P＜0.05화대조조적(106±31 )μmol/L、( 103±26)μmol/L、4.29±0.94.결론 천련질보검측혈중안기산、유리육감화지선기육감대감별영유인황달유흔고적삼고개치.
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 13 cases of BA and 12 cases of IC, as well as 13 patients with idiopathic neonatal hepatitis. 31 patients without any hepatic diseases were set as control. The concentrations of 11 kinds of amino acids, free carnitine (C0)and 30 kinds of acylcarnitines were measured using MS/MS. Results The concentration of C0 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 C0 for diagnosis of BA was higher than ratio of direct-bilirubin to total-bilirubin, total bilirubin, 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 ± 27 μmol/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 ± 28μmol/L, 116 ± 27μmol/L, 3.51 ± 0.83) and control (106 ± 31 μmol/L, 103 ± 26μmol/L, 4.29 ± 0.94) significantly (P＜0.01 ). Conclusions Bloodspot concentrations measure and comparison of amino acids, free carnitine and acylcarnitines changes in BA and IC are useful to distinguish infantile jaundice.