中文摘要：

目的：分析citrin缺陷导致的新生儿肝内胆汁淤积症（NICCD）患儿SLC25A13基因突变及生化改变特点，并探讨两者相关性。方法：2013年3月至2013年10月在暨南大学附属第一医院以胆汁淤积性肝病就诊的婴儿59例，其中经SLC25A13基斟分析确诊的NICCD患儿36例为病例组，排除NICCD且未发现明确病因的23例特发性新生儿胆汁淤积症（INC）患儿为对照组。抽取静脉血提取DNA进行SLC25A13突变检测，并分析所有研究对象的血糖、丙氨酸氨基转移酶（ALT）、天门冬氨酸氨基转移酶（AST）、γ-谷氨酰转移酶（GGT）、碱性磷酸酶（ALP）、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）等数据资料。结果：NIC-CD组ALT及LDL-C水平低于对照组。检出SLC25A13基因突变10种，其中85ldel4、IVS16ins3kb、IVS6＋5G〉A和1638ins23突变占全部突变数量的82％。不同性别及年龄段的NICCD患儿其SLC25A13基因突变分布未见不同。SLC25A13基因突变与患儿的血糖、ALT、AST、ALP、TG及HDL-C水平无关联，而与GTT的水平有关联。结论：低LDL-C血症可能是NICCD患儿血脂紊乱的特点。NICCD患儿SLC25A13基因的高频突变类型为851del4、IVS16ins3kb、IVS6＋5G〉A和1638ins23。本文NICCD患儿的SLC25A13突变分布与GGT水平之间存在相关性，但这一发现的意义有待深入研究。

英文摘要：

AIM： To investigate the characteristics of SLC25A13 mutation and biochemical indexes in the patients with neonatal intrahepatic cholestasis caused by citrin deficiency （ NICCD）, and to explore the correlationship between them. METHODS： Fifty-nine infants with cholestatic liver disease, who were admitted to the First Affiliated Hospital from March to October, 2013, were recruited as the research subjects. Among them, 36 NICCD infants diagnosed by SLC25A13 analysis were selected as the case group, while the remaining 23 cases without NICCD and other ascertained etiologies served as controls. Venous blood samples were collected for analyzing SLC25A13 gene in all subjects. The biochemical indexes were also tested. RESULTS： The levels of alanine aminotransferase （ALT） and low-density lipoprotein cholesterol （LDL-C） were lower in NICCD group than those in control group. Ten mutations of SLC25AI3 gene were found in the NICCD patients. The 4 mutations, 851de14, IVS16ins3kb, IVS6 ＋ 5G 〉 A and 1638ins23, were on the top of the list, accounting for 82% of all mutated SLC25AI3 alleles. Neither statistically significant difference between gender or age and mutation distribution, nor the correlation between SLC25AI3 mutation and such biochemical indexes as blood glucose, ALT, aspartate aminntransferase （AST）, alkaline phosphatase （ALP）, triglyceride （TG）, high-density lipoprotein cholesterol （HDL-C） or LDL-C was observed. However, the difference between SLC25A13 mutations and γ-glutamyltrans-ferase （GGT） levels in the NICCD patients was statistically significant. CONCLUSION： Lower LDL-C level may be the characteristics of dyslipidemia in the NICCD patients. The high-frequent mutations of SLC25AI3 gene in the NICCD pa- tients are 851de14, IVSl6ins3kb, IVS6 ＋5G 〉 A and 1638ins23. There is a correlation between SLC25AI3 mutations and GGT levels in the NICCD patients, but the significance of this finding remains to be clarified.