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串联质谱技术在婴儿胆汁淤积症病因诊断中的价值
Value of tandem mass spectrometry in etiological diagnosis of cholestasis in infants
文章发布日期:2015年07月08日  来源:  作者:许玲芬,张卫波,马雪梅,等  点击次数:1410次  下载次数:286次

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【摘要】:目的 探讨串联质谱技术在婴儿胆汁淤积症病因诊断中的应用价值。方法 收集2013年1月-2015年3月就诊于中国医科大学附属盛京医院儿科的153例行血、尿串联质谱检查的胆汁淤积症婴儿。记录患儿病史及体格检查特征,分析其临床生化、病原学及影像学检查结果。此外,对患儿进行血高效液相色谱-串联质谱(HPLC-MS/MS)及尿气相色谱-质谱(GC-MS)检测,针对血尿串联质谱检查异常的患儿,检测其可能的致病基因。计量资料组间比较采用非参数Mann-Whitney U检验,计数资料组间比较采用χ2检验。结果 153例婴儿胆汁淤积症患儿中血尿串联质谱异常者有19例(12.4%),结合临床资料及基因分析,其中诊断Citrin蛋白缺陷导致的新生儿肝内胆汁淤积症15例、酪氨酸血症2例、甲硫氨酸血症1例、丙酸血症1例。与串联质谱检测正常患儿相比,串联质谱异常患儿黄疸持续时间延长,ALP、GGT、胆汁酸水平明显升高,差异均有统计学意义(Z值分别为-2.227、-3.815、-2.130、-2.351,P值均<0.05);凝血酶原时间、活化部分凝血酶原时间差异亦有统计学意义(Z值分别为-4.300、-3.526,P值均<0.001)。病原学检查巨细胞病毒(CMV)阳性者占58.8%(90/153),质谱异常患儿中CMV阳性率高达78.9%(15/19)。结论 鉴于不同原因所致的婴儿胆汁淤积症临床表现及生化检查的非特异性,串联质谱技术可作为早期筛查的首选项目,在辅助婴儿胆汁淤积症的病因诊断方面,尤其是甄别遗传代谢性淤胆疾病具有重要意义。
【Abstract】:Objective To investigate the value of tandem mass spectrometry (MS/MS) in the etiological diagnosis of cholestasis in infants. Methods A total of 153 infants with cholestasis who visited the Department of Pediatrics, Shengjing Hospital, China Medical University, from January 2013 to March 2015 were studied. All of them underwent blood and urine examinations by MS/MS. The patients′ medical history and physical examination characteristics were recorded. Clinical examination results in biochemistry, etiology, and imageology were analyzed. Blood test and urine test were carried out by high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) and gas chromatography-mass spectrometry (GC-MS), respectively. For the patients with abnormal blood or urine MS/MS results, potential pathogenic genes were determined. Comparison of continuous data was made by non-parametric Mann-Whitney U test and comparison of categorical data was made by chi-square test. Results Among the 153 infants with cholestasis, 19 (12.4%) had abnormal blood or urine MS/MS results. According to clinical data and gene analysis, 15 infants among them were diagnosed with neonatal intrahepatic cholestasis caused by citrin deficiency, 2 infants with tyrosinemia, 1 infant with methioninemia, and another 1 infant with propionic acidemia. Compared with the normal MS/MS group of infants, the abnormal MS/MS group had significantly longer jaundice duration (Z=-2.227, P<0.05) and significantly higher levels of alkaline phosphatase, gamma-glutamyl transferase, and total bile acids (830.0 vs 523.0 U/L, Z=-3.185, P<0.05; 215.0 vs 160.0 U/L, Z=-2.130, P<0.05; 174.8 vs 125.7 μmol/L, Z=-2.351, P<0.05) Significant differences were also found in prothrombin time and activated partial thromboplastin time (Z=-4.300, P<0.001; Z=-3.526, P<0.001)Cytomegalovirus was detected in 58.8% (90/153) of all patients and in 78.9% (15/19) of patients with abnormal MS/MS results Conclusions Given the non-specificity of clinical manifestations and biochemical examinations for infantile cholestasis of different causes, MS/MS can be used as the first choice of early screening method and plays an important role in the etiological diagnosis of cholestasis in infants, especially in the identification of cholestasis caused by genetic and metabolic disorders.
【关键字】:胆汁淤积,肝内;诊断;串联质谱法;婴儿
【Key words】:cholestasis intrahepatic; diagnosis; tandem mass spectrometry; infant
【引证本文】:许玲芬, 张卫波, 马雪梅, 等. 串联质谱技术在婴儿胆汁淤积症病因诊断中的价值[J]. 临床肝胆病杂志, 2015, 31(8): 1257-1261.

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