Neonatal Dubin-Johnson Syndrome and its Differentiation from Biliary Atresia  

作　　者：Teng Liu Jing Zhao Jia-Yan Feng Yi Lu Jonathan A.Sheps Ren-Xue Wang Jun Han Victor Ling Jian-She Wang 

机构地区：[1]The Center for Pediatric Liver Diseases,Children’s Hospital of Fudan University,Shanghai,China [2]The Department of Pathology,Children’s Hospital of Fudan University,Shanghai,China [3]BC Cancer Agency,Vancouver,British Columbia,V5Z 1L3,Canada [4]University of Victoria-Genome BC Proteomics Center,University of Victoria,Victoria,British Columbia,V8Z 7X8,Canada [5]Shanghai Key Laboratory of Birth Defects,Shanghai,China

出　　处：《Journal of Clinical and Translational Hepatology》2023年第1期163-173,共11页临床与转化肝病杂志（英文版）

基　　金：funded by the National Natural Science Foundation of China,Grants Number 81873543 and 82171853 (to JSW);supported by the Shanghai Sailing Program (20YF1402900 to TL);Chan-Xue Yan Program of Fudan University (FDEKCXY17 to TL);Canadian Institutes of Health Research (to VL&RW);support from The Metabolomics Innovation Center through the Genome Innovations Network,and from Genome Canada,Genome BC,and Genome Alberta for operations (205MET and 7203);technology development (215MET and MC3T).

摘　　要：Background and Aims:The aim was to determine if liver biochemistry indices can be used as biomarkers to help differentiate patients with neonatal Dubin–Johnson syndrome(nDJS)from those with biliary atresia(BA).Methods:Patients with genetically-confirmed nDJS or cholangiographically confirmed BA were retrospectively enrolled and randomly assigned to discovery or verification cohorts.Their liver chemistries,measured during the neonatal period,were compared.Predictive values were calculated by receiver operating characteristic curve analysis.Results:A cohort of 53 nDJS patients was recruited,of whom 13 presented with acholic stools,and 14 underwent diagnostic cholangiography or needle liver biopsy to differentiate from BA.Thirty-five patients in the cohort,with complete biochemical information measured during the neonatal period,were compared with 133 infants with cholangiographically confirmed BA.Total and direct bilirubin,alanine aminotransferase(ALT),aspartate aminotransferase(AST),total bile acids,alkaline phosphatase,and gamma-glutamyl transferase were significantly lower in nDJS than in BA.In the discovery cohort,the areas under the curve for ALT and AST were 0.908 and 0.943,respectively.In the validation cohort,13/15 patients in the nDJS group were classified as nDJS,and 10/53 in the BA control group were positive(p<0.00001)with an ALT biomarker cutoff value of 75 IU/L.Thirteen of 15 patients were classified as nDJS and none were classified positive in the BA group(13/15 vs.0/53,p<0.00001)with an AST cutoff of 87 IU/L.Conclusions:Having assembled and investigated the largest cohort of nDJS patients reported to date,we found that nDJS patients could be distinguished from BA patients using the serum AST level as a biomarker.The finding may be clinically useful to spare cholestatic nDJS patients unnecessary invasive procedures.

关 键 词：JAUNDICE ABCC2 CHOLESTASIS MRP2 Acholic stools 

分 类 号：R575[医药卫生—消化系统]