Cavagnaro Santa María Felipe, Roque Espinosa Jorge, Guerra Hernández Pamela
Facultad de Medicina, Clínica Alemana, Universidad del Desarrollo, Chile,
Facultad de Medicina, Clínica Alemana, Universidad del Desarrollo, Chile.
Rev Chil Pediatr. 2018 Feb;89(1):74-78. doi: 10.4067/S0370-41062018000100074.
Neonatal hyperammonemia secondary due to inborn errors of metabolism is a rare condition with a high rate of neurological sequelae and mortality. Initial medical management is often insufficient to stop the progressive increase of ammonia, with the consequent deterioration of the patient. For this reason, depurative techniques have been implemented, including peritoneal dialysis, intermittent hemodialysis and continuous renal replacement therapy (CRRT).
To describe our experience with continuous extracorporeal dialysis in severely ill neonates with hyperammonemia.
Retrospective review of clinical records of neonates with hyperammonemia due to congenital errors of metabolism undergoing CRRT admitted in our institution in the last 6 years. Demographic data, chronological and gestational age, gender, anthropometric and laboratory data (creatininemia, ammonemia), and severity index PIM-II where collected. It was analyzed the CRRT: modality, duration and complications. The stard of therapy depended on the response to medical management in the first 24 hours, progressive neurological involvement, or increased blood ammonia (> 400 qg/dl) at the time of admission. CRRTs were performed using the Prisma Flex system and M100 and/or HF20 filters.
6 neonates, 4 males, half of them with a history of prematurity, all with severe acute neurological involvement and severe ammonemias (> 1,000 qg/dl). The average age and weight at the start of the CRRT were 10 days and 2798 g, respectively, ammonia (median) 1,663 qg/dl (range 1,195 - 3,097). The PIM-II score had a median of 53 (range 13.4 - 87.4). On average, patients were 49.5 hours in continuous therapy. In four neonates, a mixed convective and diffusive technique (hemodiafiltration) was used, and only convective one (hemofiltration) in the 2 remaining. Mortality was 33%, and one of the survivors had permanent moderate neurological damage in clinical follow-up.
The results obtained in this extremely ill group of neonates encourage us to propose this dialytic therapy as an excellent alternative in the management of this type of patients.
由于先天性代谢缺陷导致的新生儿高氨血症是一种罕见疾病，具有较高的神经后遗症发生率和死亡率。初始药物治疗往往不足以阻止氨的持续升高，进而导致患者病情恶化。因此，已采用了净化技术，包括腹膜透析、间歇性血液透析和连续性肾脏替代治疗（CRRT）。
描述我们在患有高氨血症的重症新生儿中进行连续性体外透析的经验。
回顾性分析过去6年在我院接受CRRT治疗的因先天性代谢缺陷导致高氨血症的新生儿临床记录。收集人口统计学数据、实际年龄和胎龄、性别、人体测量和实验室数据（肌酐血症、氨血症）以及严重程度指数PIM-II。分析CRRT的方式、持续时间和并发症。治疗标准取决于入院后最初24小时对药物治疗的反应、进行性神经受累情况或入院时血氨升高（>400μg/dl）。使用Prisma Flex系统和M100及/或HF20滤器进行CRRT。
6例新生儿，4例为男性，其中一半有早产史，均有严重急性神经受累和严重氨血症（>1000μg/dl）。CRRT开始时的平均年龄和体重分别为10天和2798克，氨（中位数）为1663μg/dl（范围1195 - 3097）。PIM-II评分中位数为53（范围13.4 - 87.4）。患者平均接受持续治疗49.5小时。4例新生儿采用了对流和扩散混合技术（血液透析滤过），其余2例仅采用对流技术（血液滤过）。死亡率为3%，1例幸存者在临床随访中有永久性中度神经损伤。
在这组极危重新生儿中获得的结果鼓励我们将这种透析治疗作为这类患者管理中的一种优秀替代方法。
