论文部分内容阅读
目的探讨希特林蛋白(Citrin)缺陷所致的肝内胆汁淤积症(NICCD)患儿SLC25A13基因突变与生化指标的变化情况,并对两者的相关性进行研究。方法随机选取表现为胆汁淤积性肝病并经SCL基因分析确诊的30例患儿为观察组,未发现病因的30例患儿为对照组。对两组患儿静脉血DNA中的SLC25A13突变型进行检测,并记录两组患儿血糖、血脂[甲胎蛋白(AFP)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)]和肝功能相关酶[丙氨酸氨基转移酶(ALT)、天门冬氨酸氨基转移酶(AST)、γ-谷氨酰胺转移酶(GGT)]的变化情况。结果观察组的LDL-C水平明显低于对照组(P<0.01)。检出SLC25A13基因突变10种,其中851del4、IVS16ins3kb、IVS6+5G>A和1638ins23突变占全部突变数量的83.3%。观察组SLC25A13基因突变型与性别和年龄无相关性。结论低LDL-C血症可能是NICCD患儿血脂紊乱的特征性表现;SLC25A13的常见突变型为851del4、IVS16ins3kb、IVS6+5G>A和1638ins23,同时SLC25A13的突变型与GGT的表达存在相关性。
Objective To investigate the changes of SLC25A13 gene mutation and biochemical parameters in children with intrahepatic cholestasis (NICCD) caused by Citrin deficiency and to study their correlation. Methods Thirty children diagnosed as cholestatic liver disease diagnosed by SCL gene analysis were randomly selected as the observation group and 30 children without the etiology as the control group. The SLC25A13 mutation in venous blood DNA was detected in both groups. Blood glucose, blood lipid (AFP, triglyceride, HDL-C, And low-density lipoprotein cholesterol (LDL-C)] and hepatic function-related enzymes [alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma glutamyl transferase (GGT) Changes in the situation. Results The level of LDL-C in the observation group was significantly lower than that in the control group (P <0.01). Ten mutations of SLC25A13 gene were detected, of which 851del4, IVS16ins3kb, IVS6 + 5G> A and 1638ins23 mutations accounted for 83.3% of the total number of mutations. The observation group SLC25A13 gene mutation and gender and age no correlation. Conclusions Low LDL-C may be a characteristic manifestation of dyslipidemia in children with NICCD. The common mutations of SLC25A13 are 851del4, IVS16ins3kb, IVS6 + 5G> A and 1638ins23, and there is a correlation between SLC25A13 mutation and GGT expression.