ABSTRACT
Objective:To explore the value of changes of plasma amino acids in the diagnosis of neonatal intrahepatic cholestasis caused by Citrin deficiency (NICCD).Methods:A total of 144 infants diagnosed with cholestasis and undergoing blood tandem mass spectrometry in Jiangxi Children′s Hospital From January 2016 to December 2018 were studied.They were divided into 3 groups: NICCD group(11 cases), biliary atresia group (BA group, 40 cases), and Cholestatic Cytomegalovirus hepatitis group (CMV group, 93 cases). The plasma amino acids and biochemical results of the 3 groups were compared, and the data of the 3 groups were statistically analyzed by Kruskal- Wallis test.The items with statistical discrepancy were examined by Mann- Whitney test between groups. Results:Compared with BA group and CMV group, the levels of arginine(Arg), methionine(Met), tyrosine(Tyr), citrulline (Cit), glutamic oxaloacetic transaminase and glutamic-pyruvic transaminase ratio(AST/ALT) in NICCD group increased significantly, while the level of alanine(Ala) decreased.The above discrepancy were statistically significant(all P<0.05). The Arg, Met, Tyr, Cit, AST/ALT, and Ala levels of NICCD group were 68.518(19.714, 108.470) μmol/L, 111.724(42.156, 214.585) μmol/L, 104.394(75.642, 146.086) μmol/L, 165.664(119.874, 291.327) μmol/L, 3.17(1.97, 3.98), and 140.297(112.052, 184.015) μmol/L, respectively.The Arg, Met, Tyr, Cit, AST/ALT, and Ala levels of BA group were 29.470(10.739, 48.124) μmol/L, 32.938(24.918, 44.013) μmol/L, 78.244(66.814, 94.479) μmol/L, 23.698(19.450, 27.714) μmol/L, 1.54(1.23, 1.95), and 244.246(214.554, 295.729) μmol/L, respectively.The Arg, Met, Tyr, Cit, AST/ALT, and Ala levels of CMV group were 16.507(8.220, 28.566) μmol/L, 30.997(23.739, 37.183) μmol/L, 76.120(64.004, 86.290) μmol/L, 21.272(17.040, 24.111) μmol/L, 1.19(0.96, 1.48), and 228.468(191.131, 260.056) μmol/L, respectively.In the receiver operating characteristic (ROC) curve, the area under the ROC curve of Ala, Arg, Met, Tyr, Cit and AST/ALT in diagnosing NICCD were 0.886, 0.770, 0.906, 0.745, 0.999, and 0.887, respectively. Conclusions:The changes of plasma amino acids provides a basis for early diagnosis of NICCD.Elevated Arg, Met, Tyr, Cit and decreased Ala have high diagnostic value of NICCD.Combined with the degree of biochemical changes, plasma amino acids can help with clinical diagnosis of the disease and reduce the misdiagnosis rate.