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(3091±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p H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(3091±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.