目的 探讨先天性遗传代谢性疾病与0~2岁儿童死亡的关系和串联质谱技术筛查先天性遗传代谢性疾病的可行性。方法 对170例北京市2011年和2012年死亡的0~2岁儿童用串联质谱技术检测其新生儿期采集的滤纸干血片中11种氨基酸代谢指标和13种脂肪酸指标水平,将170例分为0~3、4~6、7~12、13~24月四组,分析每组的儿童死亡人数、出生体重、母亲孕周与氨基酸代谢水平和脂肪酸代谢水平及有机酸代谢障碍之间的关系。结果 170例死亡儿童中有氨基酸代谢指标异常5例,脂肪酸代谢指标异常7例,有机酸代谢障碍4例,共16例,占分析死亡人数的9.4%。0~3月组死亡108例,异常9例,占异常总数的56.25%(9/16);4~6月组死亡26例,异常4例,占异常总数的25.0%(4/16);7~12月组死亡26例,异常3例,占异常总数的18.75%(3/16);13~24月组死亡10例,异常0例。结论 先天性遗传代谢性疾病是造成儿童死亡的原因之一,快速、灵敏、特异的串联质谱技术是早期评价先天性遗传代谢性产物异常的有效方法。
Abstract
Objective To explore the relationships between congenital genetic metabolic disease with unknown cause death of 0~2 years old children and tandem mass spectrometry technology feasibility of screening for congenital genetic metabolic diseases. Methods The level of 11 kinds of amino acid metabolism and 13 kinds of fatty acid indicators were detected in 170 cases of 0~2 years old deaths children with tandem mass spectrometry,170 patients specimens of Beijing area from 2011 to 2012 were divided into 0~3,4~6,7~12,13~24 months groups,and analysed the relationship between birth weight,gestational,amino acid metabolism,fatty acid metabolism and the organic acid metabolism disorder in each group. Results In a total of 170 cases,children with amino acid metabolism abnormalities were 5 cases,fatty acid metabolism abnormalities were 16 cases,accounting for 9.4% of deaths.108 cases died in 0~3 months group with 9 cases of abnormal,accounting for 56.25% of total abnormalities (9/16);26 cases died in 4~6 group with abnormal in 4 cases,accounting for 25.0% of the total number of anomalies (4/16);26 cases died in 7~9 group with 3 cases of abnormal,accounting for 18.75% of the total number of anomalies (3/16);10 patients died in 13~24 months group and found no abnormalities. Conclusion Congenital genetic metabolic diseases is the causes of children death,rapid,sensitive and specific technology of tandem mass spectrometry is an effective method to early assess products of congenital abnormal genetic metabolic.
关键词
先天性遗传代谢性疾病 /
死亡 /
氨基酸 /
脂肪酸 /
串联质谱
Key words
congenital genetic metabolic diseases /
death /
amino acids /
fatty acids /
tandem mass spectrometry
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
[1] 顾学范,韩连书,高晓岚,等.串联质谱技术在遗传代谢病高危儿童筛查中的初步应用[J].中华儿科杂志,2004,42(6):401-404.
[2] 黄新文,杨建滨,童凡,等.串联质谱技术对新生儿遗传代谢病的筛查及随访研究[J].中华儿科杂志,2011,49(10):765-770.
[3] Chace DH,Kalas TA,Naylor EW.Use of tandem mass spectrometry for multianalyte screening of dried blood specimensfrom newborns[J].Clin Chem,2003,49:1797-1817.
[4] Chace DH,DiPerna JC,Mitchell BL,et al.Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death[J].Clin Chem,2001,47:1166-1182.
[5] Strnadova KA,Holub M,hl AM,et al.Long-term stability of amino acids and acylcarnitines in dried blood spots[J].Clin Chem,2007,53:717-722.
[6] Oglesbee D,Sanders KA,Lacey JM,et al.Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)[J].Clin Chem,2008,54:542-549.
[7] Turgeon CT,Magera MJ,Cuthbert CD,et al.Determination of total homocysteine,methylmalonic acid,and 2-methylcitric acid in dried blood spots by tandem mass spectrometry[J].Clin Chem,2010,56:1686-1695.
[8] Tortorelli S,Turgeon CT,Lim JS,et al.A two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders by tandem mass spectrometry[J].J Pediatr,2010,157:271-275.
[9] Wanders RJA,Ruiter JPN,IJlst L,et al.The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results[J].J Inherit Metab Dis,2010,33:479-494.
[10] Dietzen DJ,Rinaldo P,Whitley RJ,et al.National academy of clinical biochemistry laboratory medicine practice guidelines:follow-up testing for metabolic disease identified by expanded newborn screenin using tandem mass spectrometry;executive summary[J].Clin Chem,2009,55:1615-1626.
[11] De Jesús VR,Chace DH,Lim TH,et al.Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry[J].Clin Chim Acta,2010,411:684-689.
[12] Marca G,Malvagia S,Pasquini E,et al.Theinclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs[J].Rapid Commun Mass Spectrom,2008,22:812-818.
[13] 韩连书,高晓岚,叶军,等.串联质谱技术在有机酸血症筛查中的应用研究[J].中华儿科杂志,2005,43(5):325-330.
PDF(674 KB)
