Value Of Blood Tandem Mass Spectrometry In Diagnosis Of Neonatal Intrahepatic Cholestasis Caused By Citrin Deficiency

Objective:The purpose of this study was to mprove the diagnosis and treatment of infantile cholestasis caused by Citrin deficiency and reduce misdiagnosis and missed diagnosis,through statistical analysis of amino acids,acyl carnitine and some biochemical measurements.Methods:A total of 144 infants with cholestasis,diagnosed in Jiangxi provincial Children's Hospital From January 2016 to December 2018,were studied.They were divided into 11 cases of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD),40 cases of biliary atresia(BA)and 40 cases of cytomegalovirus hepatitis(cholestasis).Ninety-three children in Cytomegalovirus hepatitis(CMV)group were divided into three groups.The results of blood tandem mass spectrometry and biochemical analysis were compared.The data were analyzed by kruskal-Wallis test and MaNn-Whitney test.Results:1.0 There were differences in alanine,arginine,methionine,tyrosine and citrulline among the three groups(P < 0.05).In NICCD group,the values of arginine,ornithine,methionine and citrulline increased,while the values of alanine decreased.There was no significant hyper-aminemia in the other two groups.The difference of amino acid values between NICCD group and BA group or CMV group showed that there were still significant differences in alanine,arginine,methionine,tyrosine and citrulline values between NICCD group and BA group(P < 0.05).The ROC curve analysis of NICCD for differential amino acid diagnosis showed that the diagnostic efficiency of alanine,arginine,methionine and citrulline values was high,while the comparison between BA group and CMV group was in alanine,arginine,arginine and citrulline.There was no significant difference in the values of amino acid,methionine,tyrosine and citrulline(P > 0.05).The values of free carnitine(C0),short-chain acyl carnitine(C2,C6DC),long-chain acyl carnitine(C14,C16,C16:1,C16:1,C16:1-OH,C16-OH,C18-OH,C18:1,C18:2,C18-OH)were significantly higher than those of other groups(P<0.05).The values of long chain acyl carnitine(C14,C16,C16:1,C16:1-OH,C16-OH,C18,C18:1,C18:2,C18-OH)in NICCD group were significantly higher than those in other two groups.The difference of acyl carnitine between two groups showed that there was no significant difference in C0,C2,C6,C18 and C18-OH between NICCD group and BA group or CMV group.The remaining differences of acyl carnitine(C14,C16,C16:1,C16:1-OH,C16-OH,C18:1,C18:2)were statistically significant(P < 0.05).ROC curve analysis showed that C16,C16:1,C16:1-OH,C18:1 and C18:2 had high diagnostic efficiency..2.0 The biochemical results of Alb,TBil,DBil,IBil,ALT,AST,GGT and PT were significantly different among the three groups(P < 0.05),and the AST/ALT ratio was also significantly different(P < 0.05),Glu had no significant difference.Conclusion:Amino acids and acyl carnitine detected by blood tandem mass spectrometry provide the basis for clinical diagnosis of NICCD.Among them,the elevation of citrulline,methionine,arginine,long chain acyl carnitine and the decrease of alanine are of high diagnostic value.Combined with the degree of biochemical changes,the disease can be diagnosed clinically,and the misdiagnosis and missed diagnosis can be reduced.