PDF(1103 KB)
Clinical analysis of 15 851 children at risk of inherited metabolic diseases
LIN Shu-Xiang, SHU Jian-Bo, WANG Chao, PAN Rui, MENG Ying-Tao, ZHANG Chun-Hua, ZHANG Bi-Li, WANG Dan, ZHANG Yu-Qin
Chinese Journal of Contemporary Pediatrics ›› 2017, Vol. 19 ›› Issue (12) : 1243-1247.
PDF(1103 KB)
PDF(1103 KB)
Clinical analysis of 15 851 children at risk of inherited metabolic diseases
Objective To explore the value of urine gas chromatography-mass spectrometry (GC-MS) in the screening of children at risk of inherited metabolic diseases (IMD), and to identify the disease spectrum of IMD and the clinical characteristics of children with IMD. Methods The clinical data of 15 851 children at risk of IMD who underwent urine GC-MS in the Tianjin Children's Hospital between February 2012 and December 2016 were retrospectively analyzed. Results In the 15 851 children, 5 793 (36.55%) were detected to have metabolic disorders. A total of 117 (0.74%) children were confirmed to have IMD, including 77 cases of methylmalonic acidemia (65.8%). The clinical manifestations of confirmed cases in the neonatal period mainly included jaundice, metabolic acidosis, abnormal muscular tension, feeding difficulty, poor response, and lethargy or coma. The clinical manifestations of confirmed cases in the non-neonatal period mainly included delayed mental and motor development, metabolic acidosis, convulsion, recurrent vomiting, and anemia. Conclusions GC-MS is an effective method for the screening for IMD in children at risk. Methylmalonic acidemia is the most common IMD. The clinical manifestations of IMD are different between the confirmed cases in the neonatal and non-neonatal periods.
Gas chromatography-mass spectrometry / Inherited metabolic disease / Child
[1] Tebani A, Abily-Donval L, Afonso C, et al. Clinical metabolomics:the new metabolic window for inborn errors of metabolism investigations in the post-genomic era[J]. Int J Mol Sci, 2016, 17(7):1167.
[2] Kuhara T. Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry[J]. J Chromatogr B Biomed Sci Appl, 2001, 758(1):3-25.
[3] Kuhara T. Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry[J]. J Chromatogr B Analyt Technol Biomed Life Sci, 2002, 781(1-2):497-517.
[4] 张美和, 丛玉隆. 检验与临床诊断——儿科学分册[M]. 北京:人民军医出版社, 2006:45-130.
[5] 彭薇, 张万巧, 封志纯. 气相色谱-质谱法检测遗传代谢性疾病高危患儿[J]. 临床儿科杂志, 2014, 32(9):888-891.
[6] 罗小平, 王慕逖, 魏虹, 等. 尿滤纸片法气相色谱-质谱分析技术在遗传性代谢病高危筛查诊断中的应用[J]. 中华儿科杂志, 2003, 41(4):9-12.
[7] 孙卫华, 杨毅, 曹迪, 等. 气-质联用技术测定尿有机酸方法的建立及在遗传代谢病诊断中的应用[J]. 中华检验医学杂志, 2008, 31(10):1161-1165.
[8] 韩凤, 韩连书, 叶军, 等. 气相色谱-质谱检测的564例遗传代谢病疾病谱分析[J]. 中华内分泌代谢杂志, 2013, 29(8):693-695.
[9] 郝虎, 李思涛, 欧阳学军, 等. 遗传性代谢病高危婴幼儿4710例尿素酶预处理-气相色谱-质谱技术筛查分析[J]. 中华实用儿科临床杂志, 2015, 30(21):1660-1662.
[10] 田国力, 王燕敏, 许洪平, 等. 非衍生化串联质谱技术筛查上海部分地区新生儿遗传代谢病的回顾性分析[J]. 临床检验杂志, 2016, 34(12):909-912.
[11] Shu J, Lv X, Jiang S, et al. Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China[J]. Childs Nerv Syst, 2014, 30(12):2109-2114.
[12] 舒剑波, 林书祥, 孟英韬, 等. 一个β-脲基丙酸酶缺陷症家系UPB1基因突变分析[J]. 中华医学遗传学杂志, 2015, 32(5):647-650.
[13] 舒剑波, 蔡凤英, 范文轩, 等. 一个琥珀酸半醛脱氢酶缺陷症家系ALDH5A1基因的突变检测[J]. 中华医学遗传学杂志, 2017, 34(1):6-9.
[14] 娄燕, 尹娜, 陈凤琴, 等. 串联质谱技术选择性筛查遗传代谢病高危患儿552例初步分析[J]. 中国当代儿科杂志, 2011, 13(4):296-299.
[15] 舒剑波, 张玉琴, 姜淑贞, 等. 2甲基3羟基丁酰辅酶A脱氢酶缺陷症一家系基因突变分析[J]. 中华儿科杂志, 2013, 51(10):783-786.
[16] Han L, Wu S, Ye J, et al. Biochemical, molecular and outcome analysis of eight Chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening[J]. Am J Med Genet A, 2015, 167A(10):2300-2305.
[17] Shinka T, Inoue Y, Yoshino M, et al. Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening[J]. J Chromatogr B Analyt Technol Biomed Life Sci, 2002, 776(1):65-70.
[18] Lin HJ, Neidich JA, Salazar D, et al. Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening[J]. J Pediatr, 2009, 155(6):924-927.
