摘要
目的探讨张家界地区土家族人群中Citrin蛋白缺陷所致新生儿肝内胆汁淤积症(NICCD)的SLC25A13基因突变类型及生化特点。方法选取2014年9月~2016年12月张家界市人民医院儿科收治的特发性胆汁淤积症(INC)患儿进行SLC25A13基因突变分析;确诊NICCD为观察组,随机选取除外NICCD的胆汁淤积症患儿为对照组,比较两组生化指标的差异。结果 85例患儿行SLC25A13基因突变分析,确诊NICCD者7例,检出SLC25A13基因突变3种,分别为1851del4、IVS6+5G>A、1638ins23突变,其中1851del4突变占全部突变数量的57.10%。观察组胆汁酸(TBA)、γ-谷氨酰转肽酶(GGT)、凝血酶原时间(PT)、天门冬氨酸氨基转移酶(AST)/丙氨酸氨基转移酶(ALT)水平高于对照组,ALT、AST、清蛋白(Alb)、血糖(BS)水平低于对照组,差异有统计学意义(P<0.05)。结论 SLC25A13基因突变所致NICCD是张家界地区土家族人群特发性胆汁淤积症的重要病因之一,以1851del4突变型最常见;NICCD患儿生化指标改变有助于早期识别疾病。
Objective To investigate the mutation and biochemical characteristics of SLC25A13 gene in neonatal intrahepatic cholestasis caused by Citrin protein deficiency（NICCD） in Tujia minority in Zhangjiajie Area.Methods SLC25A13 gene mutation analysis was performed in children with idiopathic neonatal cholestasis（INC） admitted to the Department of Pediatrics in our Hospital from September 2014 to December 2016.The patients diagnosed with NICCD were classified into observation group.Pediatric patients randomly selected except for NICCD were assigned to control group.The differences in biochemical indicators between the two groups were compared.Results Among 85 pediatric patients performed with SLC25A13 gene mutation analysis,7 cases were diagnosed as NICCD.The SLC25A13 gene mutated for three mutations including 1851 del4,IVS6＋5〉 GA,and 1638 ins23,of which the 1851 del4 mutation accounted for 57.10% of the total mutations.The comparison of biochemical indicators showed that the total bile acid,gammaglutamyl transpeptidase,prothrombin time,and aspartate aminotransferase/alanine aminotransferase（AST/ALT） were higher in the observation group than in the control group,and the levels of ALT,AST,serum albumin,and BS were lower in the observation group than in the control group（P〈0.05）.Conclusion NICCD due to SLC25A13 gene mutation is one of the main causes for INC in Tujia minority in Zhangjiajie Area.The 1851 del4 mutant is the most common type.Changes in biochemical markers in NICCD children are helpful for early identification of the disease.
作者
张伟
田昌军
汪宏波
刘芳平
覃大卫
ZHANG Wei;TIAN Chang-jun;WANG Hong-bo;LIU Fang-ping;QIN Da-wei(Department of Neonatology,Zhangjiajie People＇s Hospital,Hu＇nan Province,Zhangjiajie 427000,Chin)
出处
《中国当代医药》
2018年第22期45-47,共3页
China Modern Medicine
基金
湖南省张家界市科技计划重点项目(2015JB1128)
