ABSTRACT
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 3 300(3 050, 3 583) 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 586-1 250 μmol/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.