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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 etiology of neonatal hyperammonemia. Methods From September 2010 to February 2011, 458 neonates eligible for screening were enrolled in neonatal ward and pediatric rehabilitation department of MCH hospital in Hunan Province. Blood samples were collected for blood ammonia analysis by appropriate amount of venous blood, Ammonia after 3 days in children with symptomatic treatment due to blood ammonia does not decline or rise descending blood gas, blood biochemistry, urine ketone body, urine gas chromatography - mass spectrometry, tandem mass spectrometry blood ester acylcarnitine spectroscopy and blood Amino acid analysis, if necessary, liver biopsy and enzymatic testing. Results A total of 172 cases of children with hyperammonemia were found, the total incidence was about 37.5%. Including congenital hyperammonemia in 10 cases (including ornithine carbamoyl transferase deficiency in 5 cases, 3 cases of dicarboxylic aciduria, methylmalonic acid and homocysteinemia in 2 cases) 162 cases of transient hyperammonemia in neonates. Conclusions The cause of neonatal hyperammonemia is complex. It is mainly characterized by transient hyperammonemia in neonatal period. The incidence is mostly related to preterm birth, low birth weight, infection and parenteral nutrition. Congenital high ammonia incidence is low. It is of positive significance to detect blood ammonia in neonates with symptoms related to the central nervous system and other factors that have a high risk of blood ammonia.