【摘要】 目的探讨citrin缺陷导致新生儿肝内胆汁淤积症（neonatal intrahepatic cholestasis caused by citrin deficiency,NICCD）的临床特点及SLC25A13基因突变分析。方法对21例特发性胆汁淤积症（idiopathic neonatal choholestasis,INC）患儿应用PCR扩增和测序进行SLC25A13基因18个外显子突变检测,分析患儿的血生化指标及串联质谱法分析血氨基酸。结果 4例患儿诊断为NICCD,其中1例患儿为纯合突变c.851₈54delG TAT（p.Met284fs）,其他3例患儿为复合杂合突变c.851₈54delG TAT（p.Met284fs）/c.115G>T（p.Asp39Tyr）,c.1064G>A（p.Arg355Gln）/c.1157G>T（p.Gly386Val）,c.1078C>T（p.Arg360Term）/c.IVS4+6A>G。患儿血清天门冬氨酸氨基转移酶（AST）均高于丙氨酸氨基转移酶（ALT）,AST/ALT比值介于2.0⁴.4。患儿空腹血糖均明显降低,甲胎蛋白（AFP）均明显升高。常见的血氨基酸升高为瓜氨酸。结论 SLC25A13基因突变分析有助于NICCD的早期诊断。更多还原

【Abstract】 Objective To explore the clinical features of children with neonatal intrahepatic cholestasis caused by citrin deficiency( NICCD),anayze SLC25A13 gene mutation. Methods PCR amplification and gene sequencing were used to detect mutations of 18 exons in SLC25A13 gene among 21 children with idiopathic neonatal choholestasis( INC),blood biochemical indexes were analyzed,tandem mass spectrometry was used to analyze blood amino acids. Results Four cases were diagnosed as NICCD,of which one case was homozygous mutation c. 851_ 854 delG TAT( p. Met284fs), the other three cases were compound heterozygous mutations: c. 851_ 854 delG TAT( p. Met284fs)/c. 115 G > T( p. Asp39Tyr), c. 1064 G > A( p. Arg355Gln)/c. 1157 G > T( p. Gly386Val), c. 1078 C > T( p. Arg360Term)/c. IVS4+6A>G. The levels of serum aspartate aminotransferase( AST) were higher than those of serum alanine aminotransferase( ALT),the ratio of AST/ALT ranged from 2. 0 to 4. 4. The levels of fasting plasma glucose decreased significantly,the levels of alpha fetoprotein( AFP) increased significantly. The common increased amino acid was citrulline. Conclusion Analysis on SLC25A13 gene mutation is helpful for early diagnosis of NICCD.更多还原