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病例报告:在资源有限的情况下,换血疗法是否可能成为甲基丙二酸血症新生儿代谢失代偿的一种治疗方法?

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?

作者信息

Cui Xiaoyu, Li Na, Xue Hong, Zhang Fang, Shu Jianbo, Liu Yang

机构信息

Department of Neonatology, Tianjin Children's Hospital/Tianjin University Children's Hospital, Tianjin, China.

Graduate College, Tianjin Medical University, Tianjin, China.

出版信息

Front Pediatr. 2022 Jul 25;10:926793. doi: 10.3389/fped.2022.926793. eCollection 2022.

Abstract

Hyperammonemia is a serious complication of methylmalonic acidemia, with high mortality and permanent neurological sequelae in survivors. Primary hospitals are often the first admission hospitals for these children but are limited by their experience and facilities to provide rapid and effective treatment, increasing the risk of death in children with methylmalonic acidemia's metabolic crisis. In this report, we reported a case of a 7-day-old male neonate with decompensated methylmalonic acidemia, who underwent automatic peripheral arteriovenous exchange transfusion. The serum ammonia level of the boy decreased significantly post exchange transfusion. Therefore, we put forward the suggestion of exchange transfusion for hyperammonemia, in combination with medical therapy, in children with inborn errors of metabolism as an initial treatment option in primary hospitals if a rapid transfer to a center with dialysis facilities is not possible.

摘要

高氨血症是甲基丙二酸血症的一种严重并发症,幸存者死亡率高且会遗留永久性神经后遗症。基层医院往往是这些患儿的首诊医院,但受经验和设备所限,难以提供快速有效的治疗,增加了甲基丙二酸血症患儿代谢危象时的死亡风险。在本报告中,我们报道了1例7日龄失代偿性甲基丙二酸血症男婴,其接受了自动外周动静脉交换输血治疗。交换输血后该男婴的血清氨水平显著下降。因此,我们提出对于患有先天性代谢缺陷的患儿,在无法迅速转至有透析设备的中心时,基层医院可将交换输血联合药物治疗作为高氨血症的初始治疗方案。

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