Screening of 296 106 newborns with intrahepatic cholestasis caused by citrin protein deficiency from May 2015 to December 2021 in Heze area
LIU Chang
FANG Zhennan
ZHAO Fen
WANG Yufeng
XU Longfang
WANG Guangrong
WANG Qinghua
Abstract：Objective To understand the screening of 296 106 newborns with intrahepatic cholestasis caused by ci-trin protein deficiency born in Heze area from May 2015 to December 2021.Methods The heel blood samples of 296 106 newborns born in Heze area from May 2015 to December 2021 were collected to screen for intrahepatic cholestasis caused by the deficiency of citrin protein.The primary screening method was liquid chromatography-tandem mass spec-trometry(LC-MS/MS)analysis.In addition to LC-MS/MS analysis,alpha-fetoprotein(AFP),SLC25A13 gene detection,and gas chromatgraphy-mass spectrometrometry(GC-MS)were performed during follow-up.Results Sixteen cases of in-trahepatic cholestasis were confirmed,the prevalence rate was 16/296 106,the detection rate was 13/16.Among them,8 cases were diagnosed with the increase of specific citrulline value in the primary screening,5 cases were diagnosed with re-screening of abnormal non-specific index value,and 3 cases were diagnosed with rescreening after onset.Compared with the primary screening,the results of MS/MS were significantly different,and the results of urine gas chromatography,blood AFP,SLC25A13 gene were obviously abnormal.A total of 11 SLC25A13 gene mutations were found,and c.852_855del was the most common mutation,accounting for 50%,followed by IVS16ins3kb,accounting for 33%.Conclu-sions Most cases of intrahepatic cholestasis caused by citlin protein deficiency can be primarily screened by MS/MS,and rescreening should be combined with urine gas chromatography,blood AFP,SLC25A13 gene detection to improve the detection rate of this disease.
Keywords：citlin protein deficiencyintrahepatic cholestasisliquid chromatography-tandem mass spectrometrygas chromatgraphy-mass spectrometrometryalpha fetoproteinSLC25A13 gene
Publication Date：2023-12-25
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 26-30 )