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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.851_854delG TAT(p.Met284fs),其他3例患儿为复合杂合突变c.851_854delG 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2.0~4.4。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。
Objective To investigate the clinical features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) caused by citrin deficiency and to analyze the mutation of SLC25A13 gene. Methods Twenty-one cases of idiopathic neonatal choholestasis (INC) children were detected by PCR amplification and sequencing. The eighteen exon mutations in SLC25A13 gene were detected. The blood biochemical markers and tandem mass spectrometry . Results Four children were diagnosed as NICCD, one of whom had a homozygous mutation of c.851_854delG TAT (p.Met284fs) and the other three had a combined heterozygous mutation of c.851_854delG 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. Children with serum aspartate aminotransferase (AST) were higher than alanine aminotransferase (ALT), AST / ALT ratio between 2.0 to 4.4. Fasting blood glucose in children were significantly lower, AFP were significantly higher. Common blood amino acid to citrulline. Conclusion SLC25A13 gene mutation analysis contributes to the early diagnosis of NICCD.