PCCB基因突变致丙酸血症合并扩张型心肌病1例

A case of propionic acidemia complicated with dilated cardiomyopathy caused by PCCB mutation

PCCB基因突变可导致丙酸血症(PA),该病是一种十分罕见的遗传代谢病,其临床表现涉及多个系统,诊断困难。本文报道了12岁患儿因“咳嗽、活动后气促1周”就诊于河北省儿童医院,其基因检测提示PCCB基因有2个杂合突变:c.31_40del(p.G11fs*51),c.1087T>C(p.S363P),结合血尿遗传代谢筛查、心脏超声结果,诊断为丙酸血症、扩张型心肌病,经限制蛋白质饮食、补充肉碱及纠正心衰治疗后好转出院。

PCCB gene mutation can lead to propionic acidemia(PA), which is a very rare genetic metabolic disease with clinical manifestations involving multiple systems and difficult to diagnose. This article reports that a 12-year-old child was admitted to Children’s Hospital of Hebei Province because of “cough and shortness of breath after exercise for 1 week”.The genetic test showed that there were 2 heterozygous mutations in PCCB gene: c.31_40del(p.G11fs*51), c.1087T>C(p.S363P), combined with hematuria genetic metabolic screening, echocardiography results, diagnosed as propionic acidemia,dilated cardiomyopathy(DCM), improved and discharged after treatment with protein restriction, carnitine supplementation and correction of heart failure.