SLC25A13基因突变在Citrin缺陷新生儿肝内胆汁淤积症生化指标变化中的临床意义

Clinical significance of SLC25A13 gene mutation in biochemical indexes changes of NICCD

目的探讨SLC25A13基因突变在Citrin缺陷新生儿肝内胆汁淤积症生化指标变化中的临床意义。方法回顾性选取2014年1月至2018年12月宝鸡市妇幼保健院和西安交通大学第一附属医院收治的胆汁淤积性肝病婴儿80例,其中Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)患儿40例,为观察组;特发性新生儿胆汁淤积症(INC)患儿40例,为对照组。对两组患儿进行静脉血生化检查和SLC25A13基因突变类型检测,记录和分析两组患儿生化指标的差异、观察组患儿SLC25A13基因突变类型和生化指标之间的关系。结果观察组患者的血低密度脂蛋白胆固醇、丙氨酸氨基转移酶低于对照组(t=4.299,14.761,P<0.05)。40例NICCD患儿通过SLC25A13基因检测,发现突变类型851de14 25例(62.5%)、IVS16ins3kb 6例(15.0%)、IVS6+5GD>A 3例(7.5%),其他类型突变6例(15.0%)。通过卡方检验分析,γ-谷氨酰转移酶与SLC25A13基因突变类型分布相关(χ2=9.573,P<0.05)。结论NICCD患儿血低密度脂蛋白胆固醇、丙氨酸氨基转移酶水平降低,可能为其的生化特点,γ-谷氨酰转移酶与SLC25A13基因突变类型分布相关,需进一步研究明确其临床意义和价值。

Objective To investigate the clinical significance of SLC25A13 gene mutation in biochemical indexes changes of NICCD.Methods 80 cases infants with cholestasis liver disease from January 2014 to January 2018 in Baoji Women's&Children's Hospital and The first Affiliated Hospital of XI'an Jiaotong University were included into the present study,including 40 cases of NICCD infants,as the observation group,40 cases of INC infants,as the Control group.Infants of two groups of children with venous blood biochemical examination and SLC25A13 gene mutations were detected.The differences of biochemical indexes between two groups,and the relationships between SLC25A13 gene mutation types with biochemical indexes of observation group were recorded and analyzed.Results The blood low density lipoprotein cholesterol and alanine aminotransferase in the observation group were lower than that in the control group(t=4.299,14.761,P<0.05).Forty children with NICCD were detected by SLC25A13 gene,and the mutation type 851de14 was found in 25 cases(62.5%),IVS16ins3kb in 6 cases(15%),IVS6+5GD>A in 3 cases(7.5%),and other types in 6 cases(15%).Gamma glutamyl transferase is related to the type distribution of SLC25A13 mutations(χ^2=9.573,P<0.05).Conclusion NICCD serum low density lipoprotein cholesterol,alanine aminotransferase levels decreased,may have its biochemical characteristics.Gamma glutamyl transferase is related to the type distribution of SLC25A13 mutations,needs further research and clarify its clinical significance and value.