期刊
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
卷 26, 期 3, 页码 255-259出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0035-1551566
关键词
biliary atresia; neonatal intrahepatic cholestasis caused by citrin deficiency; hexose; tandem mass spectrometry
资金
- Science and Technology Commission of Shanghai Municipality [134119a4000]
- frontier technology research project of Shanghai Shenkang Hospital Development Center [SHDC12013124]
PurposeThe aim of this article is to differentiate neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) from biliary atresia (BA) by total hexose. MethodsA total of 11 patients with NICCD, 29 patients with BA, and 4,898 children as controls were involved in this study. The blood concentration of amino acids, carnitine, acylcarnitines, and total hexose were measured in dry blood spots (DBS) using tandem mass spectrometry (MS/MS). ResultsIn the patients with NICCD, the blood concentration of the total hexose (15.39.0 mmol/L vs. 7.3 +/- 2.7 mmol/L; p<0.001), citrulline (Cit) (197.9 +/- 93.7 mu mol/L vs. 17.5 +/- 7.4 mu mol/L; p<0.001) were higher than those of patients with BA. Using total hexose (> 10 mmol/L), Cit (> 55 mu mol/L) to diagnose NICCD, the sensitivity and specificity were 66.7 and 97.8% and 90.0 and 99.1%, respectively, and all of the areas under the receiver-operating characteristic curves were greater than 0.85. ConclusionElevated total hexose in DBS measured by MS/MS associated with elevated amino acids, especially Cit can be used to diagnose NICCD and differentiate it from BA.
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