论文部分内容阅读
目的探讨尿气相色谱-质谱法在遗传代谢病(IMD)高危患儿筛查中的应用价值,以及确诊IMD的疾病谱和确诊IMD患儿的临床特点,为临床诊断和治疗提供参考。方法回顾性分析2012年2月至2016年12月在天津市儿童医院就诊的15 851例IMD高危患儿且接受了尿气相色谱-质谱法检测的患儿的临床资料。结果 15 851例IMD高危患儿中,检出代谢异常5 793例,占36.55%。确诊为IMD 117例(0.74%),其中甲基丙二酸血症77例(65.8%)。新生儿期IMD确诊患儿的临床表现主要为黄疸、代谢性酸中毒、肌张力异常、喂养困难、反应差、嗜睡或昏迷等,非新生儿期IMD确诊患儿的临床表现主要为精神运动发育落后、代谢性酸中毒、抽搐、反复呕吐、贫血等。结论气相色谱-质谱法是对IMD高危患儿筛查的有效方法;甲基丙二酸血症是最常见的IMD; 新生儿期和非新生儿期IMD确诊患儿的临床表现有不同。
Objective To investigate the clinical value of urine gas chromatography-mass spectrometry in the screening of high-risk children with inherited metabolic diseases (IMD), and to identify the disease patients diagnosed with IMD and the clinical features of the diagnosed IMD patients, so as to provide reference for clinical diagnosis and treatment. Methods The clinical data of 15 851 high risk infants with IMD who were treated in Tianjin Children’s Hospital from February 2012 to December 2016 were analyzed retrospectively. The clinical data of children with urinary tract infection were analyzed by urinary gas chromatography-mass spectrometry. Results Among 15 851 high risk infants with IMD, 5 793 cases were abnormal, accounting for 36.55%. 117 cases (0.74%) were diagnosed as IMD, including 77 cases of methylmalonic acidemia (65.8%). The clinical manifestations of neonates with IMD diagnosed in neonatal period are mainly jaundice, metabolic acidosis, abnormal muscle tone, feeding difficulties, poor response, drowsiness or coma. The clinical manifestations of non-neonatal IMD are mainly mental motor development Backward, metabolic acidosis, convulsions, repeated vomiting, anemia and so on. Conclusion Gas chromatography-mass spectrometry (GC-MS) is an effective method for screening high-risk children with IMD. Methyl malonyl-azoospermia is the most common IMD. The clinical manifestations of IMD in neonates and non-neonates are different.