Citrin缺陷所致新生儿肝内胆汁淤积症SLC25A13基因突变的分子诊断

临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (4): 312-315.

Citrin缺陷所致新生儿肝内胆汁淤积症SLC25A13基因突变的分子诊断

乐鑫¹, 熊小丽², 赵培伟¹, 周诗琼³, 鄢素琪², 梅红³, 何学莲¹

武汉市儿童医院 1.中心实验室，2.中西医结合科，3.消化内科（湖北武汉　430016）

收稿日期:2013-11-09 出版日期:2014-04-15 发布日期:2014-04-15

Molecular diagnosis of SLC25A13 gene mutation in neonatal intrahepatic cholestasis caused by citrin deficiency　YUE Xin¹, XIONG Xiaoli², ZHAO Peiwei¹, ZHOU Shiqiong³, YAN Suqi², MEI Hong³, HE Xuelian¹ (1.Clinical Research Center, 2.Department of Integrated Traditional and Western Medicine, 3. Department of Gastroenterology, Wuhan Children's Hospital, Wuhan 430016, Hubei, China)

Received:2013-11-09 Published:2014-04-15 Online:2014-04-15

摘要/Abstract

摘要：

　目的　探讨citrin缺陷导致的新生儿肝内胆汁淤积症（NICCD）患儿的SLC25A13基因突变情况。方法　选取17例确诊NICCD患儿，应用PCR-RFLP方法检测其SLC25A13基因中8种中国人最常见的突变，并结合常规实验室检查结果进行分析。结果　17例患儿中，6例为SLC25A13基因纯合突变、3例为SLC25A13基因复合杂合突变，8例为SLC25A13基因单杂合突变。共检测出3种突变类型，分别为851del4（73.1%）、1638ins23（11.5%）和IVS6+5G>A（15.4%）。17例患儿的出生体质量偏低，存在病理性黄疸，实验室检查改变包括肝功能异常、高胆红素血症、高胆汁酸血症、低蛋白血症、低血糖、凝血功能障碍、高血乳酸和高血氨等，符合NICCD患儿的典型症状。结论　851del4、1638ins23和IVS6+5G>A为中国人SLC25A13基因的突变热点。对于检测SLC25A13基因突变PCR-RFLP方法是一项便捷可靠的NICCD分子诊断技术。

Abstract: 　Objective　To investigate SLC25A13 gene mutation in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Method A total of 17 children with NICCD were collected. PCR-RFLP method was used to analyze the most common eight mutations of SLC25A13 gene in Chinese populations and results were analyzed together with routine laboratory examinations. Results In the 17 NICCD patients, there were six cases of homozygous mutation, three cases of compound heterozygous mutation and eight cases of single heterozygous mutation in SLC25A13 gene. Three kinds of mutations detected were 851del4 (73.1%), 1638ins23 (11.5%) and IVS6+5G>A (15.4%). The seventeen cases showed classical NICCD symptoms of low birth weight, pathological jaundice. And laboratory data suggested liver dysfunction, hyperbilirubinemia, hyperbileacidemia, hypoproteinemia, hypoglycemia, coagulation disorders, hyperlactacidemia and hyperammonemia. Conclusions 851del4, 1638ins23 and IVS6+5G>A are hot spots of SLC25A13 gene mutation in Chinese populations. PCR-RFLP is a rapid, convenient and reliable technology for NICCD molecular diagnosis.

乐鑫, 熊小丽, 赵培伟, 周诗琼, 鄢素琪, 梅红, 何学莲. Citrin缺陷所致新生儿肝内胆汁淤积症SLC25A13基因突变的分子诊断[J]. 临床儿科杂志, 2014, 32(4): 312-315.

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