摘要
目的探讨白蛋白在Citrin缺陷导致的新生儿肝内胆汁淤积症诊断中的临床价值。方法采用回顾性研究方法，统计分析2007年1月至2014年12月间在复旦大学附属儿科医院就诊的90例Citrin缺陷导致的新生儿肝内胆汁淤积症患儿临床资料，依据白蛋白含量分为两组：白蛋白〈30g／L（LA）组20例和白蛋白≥30g／L（NA）组70例。比较两组患儿的临床表现、实验室检查结果、血串联质谱和尿气相色谱质谱分析结果以及基因检测结果。用t检验和χ2检验进行统计学分析。结果LA组和NA组比较：脾肋下肿大程度（cm）（3．28±1．95比1．92±1．06，P=0．030）、天冬氨酸氨基转移酶／丙氨酸氨基转移酶比值[3．15（0．38-5．93）比2．14（0．26-6．67），P=0．010]、活化部分凝血酶原时间（s）（53．27土11．68比45．06±9．79，P=0．003）、国际标准化比值（1．92±1．35比1．29±0．33，P=0．001），差异有统计学意义（P〈0．05）。SLC25A13基因突变I：851-854del4与白蛋白有关联（χ2=4．76，P=0．025）。结论对临床上高度疑似Citrin缺陷导致的新生儿肝内胆汁淤积症且白蛋白〈30g／L的患儿应尽早行SLC25A13基因检测和血、尿质谱分析，及早进行干预治疗，防治并发症、改善预后。
Objective To investigate the clinical value of albumin （Alb） in the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency （NICCD）. Methods A retrospective analysis was performed for the clinical data of 90 children with NICCD who visited Children＇s Hospital of Fudan University from January 2007 to December 2014, and according to the content of Alb, these children were divided into Alb 〈 30 g/L （LA） group with 20 children and Alb ≥ 30 g/L （NA） group with 70 children. The clinical manifestations, results of laboratory examination, results of blood tandem mass spectrometry and urine gas chromatography- mass spectrometry, and gene detection results were compared between the two groups. The t-test and the chi-square test were used for statistical analysis： Results There were significant differences between the LA group and the NA group in splenomegaly degree （3.28±1.95 cm vs 1.92±1.06 cm, P = 0.030）, aspartate aminotransferase/alanine aminotransferase ratio [3.15 （0.38-5.93） vs 2.14 （0.26-6.67）, P = 0.010], activated partial thromboplastin time （53.27±11.68 s vs 45.06±9.79 s, P = 0.003）, and international normalized ratio （1.92±1.35 vs 1.29±0.33,P = 0.001）. The SLC25A13 mutation 1 851_854de14 was associated with Alb （χ2 =4.76, P = 0.025）. Conclusion As for the children with Alb 〈 30g/L who are highly suspected of having NICCD, SLC25A13 gene detection and blood/urine mass spectromelry should be performed as early as possible, in order to initiate intervention treatment as soon as possible, prevent and treat complications, and improve prognosis.
出处
《中华肝脏病杂志》
CAS
CSCD
北大核心
2016年第10期755-760,共6页
Chinese Journal of Hepatology
关键词
胆汁淤积
肝内
白蛋白类
婴儿
Cholestasis, intrahepatic
Albumins
Infant
