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目的探讨甲基丙二酸血症和丙酸血症在新生儿重症监护病房的发生率,评价串联质谱(MS/MS)和气相色谱-质谱(GC-MS)技术对这两种疾病鉴别诊断的应用价值。方法回顾性分析2009—2014年我院新生儿重症监护病房足月新生儿应用MS/MS和GC-MS进行遗传代谢病筛查的结果。纳入研究的足月新生儿均行血MS/MS筛查,出现丙酰肉碱(C3)或丙酰肉碱/乙酰肉碱(C3/C2)、丙酰肉碱/游离肉碱(C3/C0)比值增高者复查并进行尿GC-MS检查,综合两种检查结果对甲基丙二酸血症和丙酸血症进行诊断。结果通过对19 902例足月新生儿进行MS/MS初筛、GC-MS复查,确诊甲基丙二酸血症48例(2.41‰),丙酸血症3例(0.15‰),二者患病率之比为16∶1。血MS/MS初筛和复筛C3和(或)C3/C2增高的假阳性率分别高达92.4%和58.2%,甲基丙二酸血症和丙酸血症患儿各主要检测指标(C3、C3/C0、C3/C2、甘氨酸)差异无统计学意义(P>0.05),仅靠MS/MS无法准确诊断和鉴别;GC-MS可通过检测尿中甲基丙二酸、3羟基丙酸的排泄鉴别甲基丙二酸血症和丙酸血症,且各诊断指标的灵敏度和特异度较高,假阳性率较低;通过辅助指标还能对急性期继发性酮症酸中毒做出判断。结论血MS/MS筛查甲基丙二酸血症和丙酸血症假阳性率较高,且不能区分二病,但该技术快速、易于高通量化;尿GC-MS检测灵敏度高、特异性好,能从生化特征上准确对二病做出鉴别诊断。有效结合两种质谱技术能快速、高效筛选并确诊甲基丙二酸血症和丙酸血症。
Objective To investigate the incidence of methylmalonic acidemia and propionatemia in the neonatal intensive care unit, and to evaluate the differential diagnosis between the two diseases by MS / MS and GC-MS The application value. Methods A retrospective analysis of 2009-2014 neonatal intensive care unit of our hospital using neonatal / neonatal MS / MS and GC-MS screening for genetic metabolic disease results. Serum MS / MS screening for all newborn infants enrolled in the study revealed either propionylcarnitine (C3) or propionylcarnitine / acetylcarnitine (C3 / C2), propionylcarnitine / free carnitine (C3 / C0) were reviewed and urinalysis by GC-MS, the two test results on the diagnosis of methylmalonic acid and propionatemia. Results A total of 19 902 full-term newborns were examined by MS / MS and GC-MS. 48 cases (2.41%) of methylmalonic acidemia and 3 cases (0.15%) of propionic acidemia were confirmed. The prevalence ratio was 16: 1. The false positive rates of blood MS / MS screening and rescreening C3 and / or C3 / C2 were as high as 92.4% and 58.2%, respectively. The main detection indexes of children with methylmalonic acidemia and propionylcosis (C3 , C3 / C0, C3 / C2, glycine) had no statistical difference (P> 0.05), and MS / MS could not be accurately diagnosed and identified. GC-MS could detect urinary methylmalonic acid, Acid excretion differential diagnosis of methylmalonic acid and propionatemia, and the diagnostic sensitivity and specificity of the diagnosis of a higher false positive rate is low; by auxiliary indicators can also acute secondary ketoacidosis Judge. Conclusions There is a high false positive rate of serum MS / MS in detecting methylmalonic acid and propionic acidemia, and the two diseases can not be distinguished. However, the technique is rapid and easy to quantify. High sensitivity and specificity of urine GC-MS Well, from the biochemical characteristics of the two diseases to make a differential diagnosis. Effective combination of two mass spectrometry techniques enables rapid and efficient screening and diagnosis of methylmalonic acid and propionatemia.