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

被引:2
|
作者
Cui, Xiaoyu [1 ,2 ]
Li, Na [1 ]
Xue, Hong [1 ]
Zhang, Fang [1 ]
Shu, Jianbo [3 ,4 ]
Liu, Yang [1 ]
机构
[1] Tianjin Univ Childrens Hosp, Tianjin Childrens Hosp, Dept Neonatol, Tianjin, Peoples R China
[2] Tianjin Med Univ, Grad Coll, Tianjin, Peoples R China
[3] Tianjin Univ, Tianjin Childrens Hosp, Tianjin Pediat Res Inst, Tianjin, Peoples R China
[4] Tianjin Univ, Tianjin Childrens Hosp, Tianjin Key Lab Birth Defects Prevent & Treatment, Tianjin, Peoples R China
来源
FRONTIERS IN PEDIATRICS | 2022年 / 10卷
关键词
exchange transfusion; hyperammonemia; metabolic decompensation in methylmalonic aciduria; primary hospital; neonate; SUPPRESSED EXPRESSION; N-CARBAMYLGLUTAMATE; L-CARNITINE; MICE; HYPERAMMONEMIA; MANAGEMENT; DIALYSIS; THERAPY;
D O I
10.3389/fped.2022.926793
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
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页数:4
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