经连续性肾脏替代治疗的10例新生儿高氨血症临床分析

Continuous renal replacement therapy for neonatal hyperammonemia:10 cases experience

目的探讨新生儿高氨血症患儿的临床转归、遗传病因,以及应用连续性肾脏替代治疗(continuous renal replacement therapy,CRRT)的效果和安全性。方法选择2016年9月至2023年6月在泉州市妇幼保健院·儿童医院新生儿重症监护室住院行CRRT的高氨血症新生儿资料进行回顾性分析,收集患儿围产期情况、临床表现、实验室结果、基因检测结果、治疗过程及结局,根据出院时是否存活分为存活组和死亡组,应用SPSS 22.0统计软件分析两组患儿临床特点的差异。结果共纳入10例患儿,男8例,女2例;胎龄39.3(38.2,39.8)周,出生体重3300(3050,3583)g;发病日龄2.0(2.0,4.3)d;主要临床表现为抽搐、昏迷,血氨最高586~1250μmol/L。患儿行CRRT日龄3.0(2.0,8.3)d,CRRT转流时间20.5(16.5,42.8)h。CRRT前昏迷时间10.0(3.5,12.8)h,总昏迷时间20.5(12.5,29.0)h;CRRT后6 h内每小时血氨下降(52.6±22.2)μmol/L。最终诊断鸟氨酸氨甲酰基转移酶缺陷症5例,甲基丙二酸血症2例,丙酸血症、肉碱酰基肉碱转位酶缺陷症、暂时性高氨血症各1例。存活6例;出院时共死亡4例,包括2例家长放弃治疗后死亡的患儿。死亡组CRRT前昏迷时间和总昏迷时间长于存活组,差异有统计学意义(P<0.05)。结论先天性代谢缺陷是新生儿高氨血症最常见的病因,及时行CRRT可安全有效地降低血氨,并可能改善临床结局。

Objective To study clinical outcomes,genetic etiology,efficacy and safety of continuous renal replacement therapy(CRRT)for neonatal hyperammonemia.Methods From September 2016 to June 2023,neonates with hyperammonemia receiving CRRT in NICU of our hospital were retrospectively analyzed.Their perinatal conditions,clinical manifestations,laboratory results,genetic tests,treatments and outcomes were collected.The patients were assigned into survival group and death group according to their conditions at discharge.SPSS 22.0 statistical software was used to analyze the differences between the two groups.Results A total of 10 patients were enrolled,including 8 males and 2 females.The gestational age was 39.3(38.2,39.8)weeks and birth weight 3300(3050,3583)g.The age of onset was 2.0(2.0,4.3)d.The main clinical manifestations included seizures,coma and high blood ammonia level(up to 586-1250μmol/L).The patients received CRRT at 3.0(2.0,8.3)d of age and CRRT lasted for 20.5(16.5,42.8)h.Before CRRT,average time of coma was 10.0(3.5,12.8)h and the total duration of coma was 20.5(12.5,29.0)h.After CRRT,blood ammonia decreased(52.6±22.2)μmol/L every hour for 6 h.The genetic tests showed ornithine transcarbamylase deficiency in 5 cases,methylmalonic acidemia in 2 cases,propionic acidemia in 1 case,carnitine acylcarnitine translocase deficiency in 1 case and transient hyperammonemia in 1 case.6 patients survived.4 patients died at discharge,including 2 withdrawal treatment.The duration of coma before CRRT and the total duration of coma in the death group were significantly longer than the survival group(P<0.05).Conclusions Inborn metabolic error are common causes of neonatal hyperammonemia.Timely CRRT can safely and effectively reduce blood ammonia levels and may improve clinical outcomes.