张家界地区土家族人群Citrin蛋白缺陷所致新生儿肝内胆汁淤积症的基因分析及生化指标特点

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Abstract 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 1851del4,IVS6+5G＞A,and 1638ins23,of which the 1851del4 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 1851del4 mutant is the most common type.Changes in biochemical markers in NICCD children are helpful for early identification of the disease.

Key words： Zhangjiajie Area Tujia minority NICCD SLC25A13 gene mutation

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	ZHANG Wei
	TIAN Chang-jun
	WANG Hong-bo
	LIU Fang-ping
	QIN Da-wei

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ZHANG Wei,TIAN Chang-jun,WANG Hong-bo, et al. Genetic analysis and biochemical index characteristics of neonatal intrahepatic cholestasis caused by citrin protein deficiency in Tujia minority in Zhangjiajie Area[J]. 中国当代医药, 2018, 25(22): 45-47.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2018/V25/I22/45

[2]	邱文娟，叶军，韩连书，等.Citrin缺陷导致的新生儿肝内胆汁淤积症12例临床和实验室研究[J].临床儿科杂志，2007，25（12）：983-987.
[3]	伍秋频，王琳琳，陈秀奇，等.广西婴儿特发性肝内胆汁淤积SLC25A13基因突变的筛查[J].世界华人消化杂志，2013，21（12）：1120-1125.
[4]	郭红梅，郑毕霞，李玫.南京地区21例SLC25A13基因突变所致Citrin蛋白缺陷引发新生儿肝内胆汁淤积症临床分析[J].临床肝胆病杂志，2014，30（11）：1127-1131.
[1]	Saheki T，Kobayashi K.Mitochondrial aspartate glutamate carrier（citrin）deficiency as the cause of adult-onset type Ⅱcitrullinemia（CTLN2）andidiopathicneonatalhepatitis（NICCD）[J].J Hum Genet，2002，47（7）：333-341.
[5]	鲁耀邦，彭菲，李孟贤，等.希特林蛋白缺乏症的研究进展及展望[J].中华医学遗传学杂志，2006，23（6）：655-658.
[6]	Ngu HL，Zabedah MY，Kobayashi K.Neonatal intrahepatic cholestasis caused by citrin deficiency（NICCD） in three Malay children[J].Malays J Pathol，2010，32（1）：53-57.
[7]	Fiermonte G，Parisi G，Martinelli D，et al.A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency（NICCD）： a clinical，molecular，and functional study[J].Mol Genet Metab，2011，104（4）：501-506.
[8]	林伟霞.我国儿科希特林缺陷病患者分子诊断研究：SLC25A13基因突变谱及其地理分布[D].广州：暨南大学，2017.
[9]	董永绥.婴儿胆汁淤积性肝病研究进展及展望[J].中国实用儿科杂志，2013，28（4）：241-245.
[10]	Lu B，Kobayashi K，Ushikai M，et al.Frequency and distribution in East Asia of 12 mutations identified in the SLC2 5 A1 3 gene of Japanese patients with citrin deficiency[J].J Hum Gent，2005，50（7）：338-346.
[11]	宋元宗，小林圭子.Citrin缺陷病[J].中华实用儿科临床杂志，2008，23（20）：1564-1565.
[12]	温鹏强，王国兵，陈占玲，等.Citrin缺陷导致的新生儿肝内胆汁淤积症SLC25A13基因分析[J].中国当代儿科杂志，2011，13（4）：303-308.
[13]	唐莲，李双杰，姜涛，等.希特林蛋白缺陷所致肝内胆汁淤积症患儿的相关基因与其生化指标的变化[J].中国妇幼保健，2017，32（5）：1013-1015.
[14]	尹利芳，温鹏强，刘晓红，等.Citrin缺陷致新生儿肝内胆汁淤积症患儿生化改变研究[J].中国优生与遗传杂志，2012，20（2）：79-81.
[15]	白欣立，王小康，杨亭亭，等.希特林缺陷致新生儿肝内胆汁淤积症患儿血生化及预后观察[J].河北医药，2017，39（19）：2980-2982.
[16]	Wang JS，Wang XH，Zheng YJ，et al.Biochemical characteristics of neonatal cholestasis induced by citrin deficiency[J].World J Gastroentero，2012，18（39）：5601-5607.