新生儿期高氨血症的临床筛查  

Clinical Screening of Hyperammonemia in Neonatal Period

作　　者：钟丽霞[1] 王鷁超 曹蓓[2] 吴虹[1] 

机构地区：[1]湖南省妇幼保健院儿童保健科,长沙410008 [2]湖南省妇幼保健院新生儿科,长沙410008

出　　处：《实用儿科临床杂志》2011年第24期1879-1881,共3页Journal of Applied Clinical Pediatrics

基　　金：湖南省科技厅一般项目(2010SK3080)

摘　　要：目的探讨新生儿期高氨血症的病因学。方法选择2010年9月-2011年2月湖南省妇幼保健院新生儿科病房和儿童康复科门诊收治的458例符合筛查条件的新生儿作为研究对象,采适量静脉血进行血氨分析,对高氨血症患儿经过3 d的对因对症治疗后血氨不下降或不降反升者行血气、血生化、尿酮体、尿气相色谱-质谱分析、串联质谱法血液酯酰肉碱谱和血氨基酸谱分析,必要时行肝活检和酶学检测。结果共检出高氨血症患儿172例,总发生率约为37.5%。其中先天性高氨血症10例(包括鸟氨酸氨甲酰基转移酶缺乏症5例,双羧酸尿症3例,甲基丙二酸血症并同型半胱氨酸尿症2例),新生儿一过性高氨血症162例。结论新生儿期高氨血症的病因复杂,以新生儿期一过性高氨血症为主,其发病多与早产、低出生体质量、感染、胃肠外营养有关。先天性高氨血症发病率较低。对存在中枢神经系统等相关症状及存在血氨高危因素的新生儿进行血氨检测有积极意义。Objective To investigate the distribution of hyperammonemia etiology in neonatal period. Methods Four hundred and fiftyeight cases who came from Department of Neonatology of Children＇s Rehabilitation Clinic of Hunan Provincial Maternal and Child Health Hospital and met the screening criteria were selected as study object. Proper amount of blood was collected from these children for am- monia analysis. These hyperammonemia infants were given symptomatic treatment for 3 days. Those infants whose ammonia did not fall or rise should undertake blood gas analysis, blood biochemistry, urine ketone, gas chromatography -mass spectrometry analysis, plasma amino acid a- nalysis. Sometimes, liver biopsy and enzyme detection were necessary. Results One hundred and seventy - two cases who had neonatal hy- perammonemia were found, and the total incidence rate was about 37.5 %. Ten cases belonged to congenital hyperammonemia（5 cases with or- nithine carbamyl transferase deficiency ,3 cases with double - carboxylic acid aciduria, 2 cases with methylmalonic academia merger homocys- teine aciduria） ;and 162 cases belonged to transient hyperammonemia. Conclusions The cause of hyperammonemia is complex,and transient hyperammonemia dominated in neonates. The incidence of tra.nsient hyperammonemia is related to premature birth, low birth weight, infections, and parenteral nutrition. The incidence of congenital hyperammonemia is low. It is positive for those neonates who had symptoms of the central nervous system and risk factors of hyperammonemia to detect plasma ammonia concentrations.

关 键 词：高氨血症 血氨 病因学 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]