27例citrin缺陷导致的新生儿肝内胆汁淤积症尿筛查分析

Urine screen analysis of 27 cases with neonatal intrahepatic cholestasis caused by citrin defects

目的探讨citrin缺陷导致的新生儿肝内胆汁淤积症(neonatal intrahepatic cholestasis caused by citrin deficiency,NICCD)患儿尿液成分改变特点。方法应用气相色谱质谱法对27例NICCD患儿尿液半乳糖和酪氨酸及其两者代谢产物进行定性、定量分析。结果 27例中13例患儿有半乳糖合并酪氨酸代谢异常,8例患儿只表现为半乳糖代谢异常,1例患儿仅表现为丝苏氨酸比例倒置,5例患儿尿筛查未发现异常。结论①应用气相色谱质谱法分析NICCD患儿尿液成分有助了解患儿机体代谢情况,对疾病的诊断和治疗有重要的意义。②NICCD患儿常伴有半乳糖及酪氨酸代谢异常。

Objective To investigate urine composition changes in neonatal intrahepatic cholestasis caused by citrin defect（NICCD）.Methods Urine galactose,tyrosine and their metabolites of 27 cases of children with NICCD were qualitatively and quantitatively analyzed with gas chromatography mass spectrometry.Results Among the 27 cases,13 cases showed galactose and tyrosine metabolic dysbolism,8 cases had simple galactose metabolic dysbolism,1 case showed inversed ratio between serine and threonine acid and the rest 5 cases showed no abnormalities.Conclusion ①Gas chromatography mass spectrometry analysis of urine composition in children with NICCD can enhance understanding of metabolism problems of the patients,thus has important implications for diagnosis and treatment of disease.②Children with NICCD often suffer from abnormal galactose and tyrosine metabolism.