山东医药2023，Vol.63Issue(36)：26-30,5.DOI:10.3969/j.issn.1002-266X.2023.36.006
2015年5月—2021年12月于菏泽市出生的296 106例新生儿希特林蛋白缺乏致肝内胆汁淤积症的筛查
Screening of 296 106 newborns with intrahepatic cholestasis caused by citrin protein deficiency from May 2015 to December 2021 in Heze area
摘要
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.关键词
希特林蛋白缺乏/肝内胆汁淤积症/液相色谱串联质谱/气相色谱质谱/甲胎蛋白/SLC25A13基因Key words
citlin protein deficiency/intrahepatic cholestasis/liquid chromatography-tandem mass spectrometry/gas chromatgraphy-mass spectrometrometry/alpha fetoprotein/SLC25A13 gene分类
医药卫生引用本文复制引用
刘畅,房振楠,赵芬,汪玉锋,徐龙芳,王广荣,王庆华..2015年5月—2021年12月于菏泽市出生的296 106例新生儿希特林蛋白缺乏致肝内胆汁淤积症的筛查[J].山东医药,2023,63(36):26-30,5.基金项目
国家自然科学基金资助项目(82270829). （82270829）
