1 青岛市妇女儿童医院新筛实验室，山东 青岛 266000
|| 青岛市度医药科研指导项目 (2016-WJZD085)。
目的：分析青岛市280例高危新生儿遗传代谢性疾病(inher ited metabolic di sease，IMD)病例。 方法：选取2014年5月至2018年9月青岛市妇女儿童医院应用串联质谱技术进行遗传代谢疾病筛查的高危新生儿280例，采用液相色谱-串联质谱(liquid chromatography tandem mass spectrometr y， LC-MS/MS)技术进行血液、尿液化学分析，并对初筛可疑阳性病例进行尿气相色谱检测及基因分析。结果：280例IMD高危新生儿经串联质谱初筛阳性17例(6.07%)，其中脂肪酸代谢病8例(2.86%)，氨基酸代谢病5例(1.78%)，有机酸代谢病4例(1.42%)，且甲基丙二酸血症发病率最高，占1.42%(4/280)，最终确诊4例，总发病率1.42%(4/280)；17例质谱初筛阳性患儿主要表现为黄疸、肝脾肿大、代谢性酸中毒、肌张力异常、喂养困难、反应力较差、惊厥或间歇性抽搐、昏迷等，实验室检查见肝功能异常、血氨升高、代谢性酸中毒、空腹低血糖；串联质谱检测中，除鸟胺酸氨甲酰基转移酶缺乏症、原发性肉碱缺乏症异常指标表现降低外，大多数指标均显著高于参考值上限。结论：青岛市具有高危因素的新生儿人群中，IMD存在一定发病率，对其进行质谱筛查意义重大。
Clinical analysis of 280 high-risk neonates with inherited metabolic disease in Qingdao
CorrespondingAuthor: LI Wenjie
This work was supported by the Qingdao Medical Scientific Research Guidance Project, China (2016-WJZD085).
Objective: To analyze the cases from 280 high-risk neonates with inherited metabolic disease (IMD) in Qingdao. Methods: A total of 280 high-risk neonates screening inherited metabolic disease by serial mass spectrometry from May 2014 to September 2018 in Women’s and Children’s Hospital of Qingdao were chosen. The blood and urine were chemically analyzed by liquid chromatography tandem mass spectrometry (LC-MS/MS), urine gas chromatography and genetic analysis were performed on suspected positive cases. Results: Of the 280 high-risk IMD newborns, 17 cases (6.07%) were positive by tandem mass spectrometry, including 8 cases fatty acid metabolic diseases (2.86%), 5 cases amino acid metabolic diseases (1.78%), and 4 cases organic acid metabolic diseases (1.42%), the incidence of methylmalonic acidemia was the highest, accounting for 1.42% (4/280). There were 4 cases by the final diagnosis, the total incidence rate of 1.42% (4/280); 17 cases of primary mass spectrometry positive children manifested as jaundice, hepatosplenomegaly, metabolic acidosis, abnormal muscle tone, feeding difficulties, poor reaction, convulsions or intermittent convulsions, coma, et al. Laboratory tests showed abnormal liver function, elevated blood ammonia, metabolic acidosis, fasting hypoglycemia; In the tandem mass spectrometry detection, in addition to the reduced abnormal indicators performance on avian acid carbamoyl transferase deficiency and primary carnitine deficiency, most of the indicators were significantly higher than the upper limit of the reference value. Conclusion: In the neonatal population with high risk factors in Qingdao, there is a certain incidence of IMD, and it is of great significance to perform mass spectrometry screening.
Qingdao; high risk; newborn; inherited metabolic disease; screening; mass spectrum