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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。
OBJECTIVE: To investigate the effects of Hedlin protein deficiency on neonatal intrahepatic cholestas is caused by citrin deficiency (NICCD) by gas chromatography-mass spectrometry (GC-GC) / MS) analysis, which proposed to screen biochemical indicators of NICCD, NICCD genotypes and urinary galactitol levels. Methods: ①A total of 15 NICCD children who had been diagnosed with genotypes by mutation analysis of peripheral blood SLC25A13 were selected and their urine samples before and after treatment were collected. Totally 10 children with acute viral hepatitis and 60 healthy children Urine samples as a control; ② the original urine after pretreatment with urease GC / MS test. Results: ①The urine galactitol level in NICCD children before treatment was significantly higher than that in normal children and hepatitis group. ②NICCD children with type I homozygous and Group I heterozygous had no significant difference in urine galactitol before treatment; ③IgG mutation homozygous group and heterozygous group after treatment, urine galactitol levels were significantly decreased, compared with before treatment were significantly different. Conclusions: Urine GC / MS analysis showed that when the level of galactitol was significantly increased, NICCD was suggested in children and urinary galactitol could be used as a biochemical index to screen NICCD. Urinalysis of galactitol on NICCD Genotyping did not suggest a significant role.