Neurological involvement is frequent in inherited metabolic disease of the intoxication type. Hyperammonemic coma related to these diseases may cause severe neurological sequelae. Early optimal treatment is mandatory combining metabolite scavengers (MS) and sometimes continuous veno-venous hemodialysis (CVVHD). We aimed to describe the therapeutic management of hyperammonemia in neonates upon diagnosis of their metabolic disease and to compare neonates managed with MS alone or with both MS and CVVHD. We conducted a retrospective study including all neonates admitted for initial hyperammonemia to the pediatric intensive care unit of a Reference Center of Inherited Metabolic Diseases, between 2001 and 2012. The study included 35 neonates. Before admission, MS were initiated for 11 neonates. At admission, the median ammonia levels were 391 μmol/L and were significantly lower in neonates who received MS before admission. At admission, ammonia levels were 644 μmol/L in dialyzed and 283 μmol/L in non-dialyzed neonates. The median time to reach a 50% decrease of the initial ammonia levels was significantly shorter in dialyzed neonates; however, the normalization of ammonia levels was similar between dialyzed and non-dialyzed neonates. Hemodynamic disorders were more frequent in dialyzed neonates.

Conclusion

MS represent an effective treatment for hyperammonemia and should be available in all pediatric units to avoid the need for CVVHD. Although CVVHD enhances the kinetics of toxic metabolite decrease, it is associated with adverse hemodynamic effects.

中文翻译：

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35例危重症高氨血症新生儿的管理：早期使用代谢产物清除剂和持续进行血液透析的作用。

在中毒类型的遗传性代谢疾病中，神经系统受累频繁。与这些疾病相关的高氨血症昏迷可能会导致严重的神经系统后遗症。早期最佳治疗是强制性结合代谢物清除剂（MS）以及有时进行连续静脉血液透析（CVVHD）的。我们旨在描述新生儿代谢性疾病诊断后高氨血症的治疗管理，并比较单独使用MS或同时使用MS和CVVHD进行管理的新生儿。我们进行了一项回顾性研究，包括从2001年至2012年在遗传性代谢疾病参考中心的儿科重症监护病房接受初次高氨血症的所有新生儿。该研究包括35例新生儿。入院前，有11名新生儿开始接受MS治疗。入学时 氨的中位数水平为391μmol/ L，在入院前接受MS的新生儿中明显降低。入院时，透析后的氨水平为644μmol/ L，未透析的新生儿为283μmol/ L。在透析新生儿中，达到初始氨水平降低50％的中值时间显着缩短。然而，透析和未透析新生儿的氨水平正常化相似。透析新生儿的血液动力学异常更为常见。透析和未透析新生儿的氨水平正常化相似。透析新生儿的血液动力学异常更为常见。透析和未透析新生儿的氨水平正常化相似。透析新生儿的血液动力学异常更为常见。

结论

MS是治疗高氨血症的有效方法，应该在所有小儿科均可用，以避免需要CVVHD。尽管CVVHD增强了有毒代谢产物减少的动力学，但它与不良的血液动力学效应有关。