【摘要】 目的:拟对希特林蛋白缺陷所致的新生儿肝内胆汁淤积症(neonatal intrahepatic cholestas is caused by citrin deficiency,NICCD)患儿进行尿半乳糖醇气相色谱/质谱(Gas chromatography-Mass spectrometry,GC/MS)分析,从而提出筛查NICCD的生化指标,并探讨NICCD基因型与尿半乳糖醇水平之间的关系。方法:①选择经外周血SLC25A13基因突变分析已明确基因型诊断的15例NICCD患儿,收集他们治疗前后的尿液标本,并收集10例病毒性肝炎急性期患儿、60例正常健康儿童的尿液标本作对照;②原尿液采用尿素酶前处理后进行GC/MS检测。结果:①NICCD患儿治疗前尿半乳糖醇水平明显高于正常组儿童和肝炎组患儿;②NICCD患儿I类纯合组、I类杂合组治疗前尿半乳糖醇水平无显著性差异;③I类突变纯合组和杂合组治疗后尿半乳糖醇水平均明显下降,与治疗前比较有显著性差异。结论:尿液GC/MS分析发现半乳糖醇水平明显升高时提示患儿可能有NICCD,尿半乳糖醇可以作为筛查NICCD的生化指标:尿液GC/MS分析检测半乳糖醇对NICCD的基因分型无明显提示作用。更多还原

【Abstract】 Objective:Galactitol concentration in the urine sample of patient with NICCD(neonatal intrahepatic cholestasis is caused by citrin deficiency,NICCD) was analyzed by GC/MS(Gas chromatography-Mass spectrometry) to establish a biochemical criteria to screen the patients with NICCD among the population,and the relationship between the genotype of NICCD and galactitol concentration in the urine was studied.Methods:The urine sample,from 15 patients,whose genotype of NICCD were identified by SLC25A13 genetic mutation analysis of peripheral blood,both pre-therapy and post-therapy,10 patients with virus hepatitis and 60 healthy children,were collected.Original urine samples were analyzed by gas chromatography-mass spectrometry after urea had been removed by unease.Results:1.Galactitol concentration in the urine sample before therapy in patient with NICCD had significant difference with patients with virus hepatitis and healthy people;2.There was no significant differences in galacfitol concentration in the urine sample before therapy between patient with type I homozygote NICCD and type I heterozygote NICCD.3.There was a significant difference in galactitol concentration in the urine sample between pre-therapy and post-therapy in patients with type I homozygote NICCD or type I heterozygote NICCD.Conclusion:1.An marked increase in galactitol concentration analyzed by GC-MS in the urine sample usually means the possibility of NICCD.2.Galactitol concentration analyzed by GC-MS in the urine sample has no use in identifying the genotype of NICCD.更多还原