PDF(1367 KB)
PDF(1367 KB)
PDF(1367 KB)
连续性肾脏替代治疗在新生儿遗传代谢性疾病中的应用
Application of continuous renal replacement therapy in the treatment of neonates with inherited metabolic diseases
目的 探讨连续性肾脏替代治疗（continuous renal replacement therapy，CRRT）在新生儿遗传代谢性疾病合并高氨血症救治中的有效性及安全性。方法 回顾性收集并分析2016年9月至2020年3月在湖南省儿童医院新生儿科住院的遗传代谢性疾病合并高氨血症并行CRRT的新生儿的病历资料，包括一般情况、临床指标、实验室指标、不良反应等。结果 共11例患儿入组，其中男7例（64%），女4例（36%）。平均胎龄（38.9±0.8）周，平均入院体重（3 091±266）g，CRRT日龄为（5.7±2.0）d。患儿主要表现为呕吐、抽搐（100%），昏迷（55%），原发病以尿素循环障碍性疾病为主（55%）。患儿平均CRRT总持续时间为（44±14）h，CRRT前中位昏迷时间为2 h，中位总昏迷时间为10 h。平均住院时间为（18±10）d，存活率为73%，2例幸存者出现癫痫。患儿治疗后血氨、乳酸、K+浓度较治疗前均下降（P < 0.001），治疗后pH值较治疗前上升（P < 0.001）。不良反应发生率为27%。结论 CRRT可安全有效地用于治疗新生儿遗传代谢性疾病合并高氨血症。
Objective To study the efficacy and safety of continuous renal replacement therapy (CRRT) in the treatment of neonates with inherited metabolic diseases and hyperammonemia. Methods A retrospective analysis was performed on the medical records of neonates with inherited metabolic diseases and hyperammonemia who were hospitalized and underwent CRRT in the Department of Neonatology, Hunan Children’s Hospital, from September 2016 to March 2020, including general conditions, clinical indices, laboratory markers, and adverse reactions. Results A total of 11 neonates were enrolled, with 7 boys (64%) and 4 girls (36%). The neonates had a mean gestational age of (38.9±0.8) weeks, a mean body weight of (3 091±266) g on admission, and an age of (5.7±2.0) days at the time of CRRT. The main clinical manifestations were vomiting (100%), convulsions (100%), and coma (55%), and the main primary disease was urea cycle disorder (55%). The mean duration of CRRT was (44±14) hours, the medium duration of coma before CRRT was 2 hours, and the total duration of coma was 10 hours. The patients had a mean hospital stay of (18±10) days and a survival rate of 73%, and 2 survivors had epilepsy. After treatment, all patients had significant reductions in blood ammonia, lactic acid, and K+ concentration (P < 0.001) and a significant increase in pH (P < 0.001). The incidence rate of adverse reactions was 27%. Conclusions CRRT is safe and effective in the treatment of neonates with inherited metabolic diseases and hyperammonemia.
遗传代谢性疾病 / 连续性肾脏替代治疗 / 高氨血症 / 新生儿
Inherited metabolic disease / Continuous renal replacement therapy / Hyperammonemia / Neonate
[1] Gupta S, Fenves AZ, Hootkins R. The role of RRT in hyperammonemic patients[J]. Clin J Am Soc Nephrol, 2016, 11(10):1872-1878.
[2] Silvera-Ruiz SM, Arranz JA, Häberle J, et al. Urea cycle disorders in Argentine patients:clinical presentation, biochemical and genetic findings[J]. Orphanet J Rare Dis, 2019, 14(1):203.
[3] Raina R, Bedoyan JK, Lichter-Konecki U, et al. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy[J]. Nat Rev Nephrol, 2020, 16(8):471-482.
[4] Alfadhel M, Mutairi FA, Makhseed N, et al. Guidelines for acute management of hyperammonemia in the Middle East region[J]. Ther Clin Risk Manag, 2016, 12:479-487.
[5] Yetimakman AF, Kesici S, Tanyildiz M, et al. Continuous renal replacement therapy for treatment of severe attacks of inborn errors of metabolism[J]. J Pediatr Intensive Care, 2019, 8(3):164-169.
[6] Aygun F, Varol F, Aktuglu-Zeybek C, et al. Continuous renal replacement therapy with high flow rate can effectively, safely, and quickly reduce plasma ammonia and leucine levels in children[J]. Children (Basel), 2019, 6(4):53.
[7] Aygun F, Aygun D, Erbek Alp F, et al. The impact of continuous renal replacement therapy for metabolic disorders in infants[J]. Pediatr Neonatol, 2018, 59(1):85-90.
[8] 卢刻羽, 赵非, 郭艳, 等. 连续性肾脏替代治疗6例新生儿高氨血症疗效观察[J]. 中华新生儿科杂志(中英文), 2020, 35(2):133-136.
[9] Porta F, Peruzzi L, Bonaudo R, et al. Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism[J]. Nephrology (Carlton), 2018, 23(10):957-961.
[10] Kim JY, Lee Y, Cho H. Optimal prescriptions of continuous renal replacement therapy in neonates with hyperammonemia[J]. Blood Purif, 2019, 47(1-3):16-22.
[11] Akduman H, Okulu E, Emino?lu FT, et al. Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease:a single center experience[J]. Turk J Med Sci, 2020, 50(1):12-17.
[12] Gündüz M, Ünal S, Okur ?, et al. Neonates with inborn errors of metabolism:spectrum and short-term outcomes at a tertiary care hospital[J]. Turk J Pediatr, 2015, 57(1):45-52.
[13] Lai YC, Huang HP, Tsai IJ, et al. High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children[J]. Blood Purif, 2007, 25(4):303-308.
[14] Arbeiter AK, Kranz B, Wingen AM, et al. Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism[J]. Nephrol Dial Transplant, 2010, 25(4):1257-1265.
[15] Osgood M, Muehlschlegel S. POINT:should continuous venovenous hemofiltration always be the preferred mode of renal replacement therapy for the patient with acute brain injury? yes[J]. Chest, 2017, 152(6):1109-1111.
[16] Redant S, Beretta-Piccoli X, Mugisha A, et al. Hyperammone-mia, the last indication of high-volume hemodiafiltration in adult and children:a structured review[J]. Blood Purif, 2019, 48(4):330-335.
[17] Spinale JM, Laskin BL, Sondheimer N, et al. High-dose continuous renal replacement therapy for neonatal hyperam-monemia[J]. Pediatr Nephrol, 2013, 28(6):983-986.
[18] Hanudel M, Avasare S, Tsai E, et al. A biphasic dialytic strategy for the treatment of neonatal hyperammonemia[J]. Pediatr Nephrol, 2014, 29(2):315-320.
儿童急救医学湖南省重点实验室（2018TP1028）。
