摘要
线粒体中间肽酶(MIPEP)基因突变可导致心、脑等脏器功能异常。本文收集并分析复旦大学附属儿科医院收治的1例以心肌病首发的联合氧化磷酸化缺陷31型患儿,其临床表现为扩张型心肌病、心力衰竭、发育迟缓,后出现癫痫发作、多脏器功能衰竭,家属放弃治疗后死亡。外显子组测序显示纯合隐性MIPEP基因突变。线粒体功能缺陷在临床上可表现为单个或多个器官的受累,对于那些不明原因的心肌病或心力衰竭患者,应同时考虑线粒体疾病可能,临床上应与遗传科、神经科等多学科合作,早期实现综合诊治。
Mutations in the mitochondrial intermediate peptidase(MIPEP)gene can cause impaired function of the heart,brain and other organs.We collected and analyzed the clinical data of a child diagnosed with combined oxidative phosphorylation deficiency type 31,who was admitted to Children's Hospital of Fudan University and presented with cardiomyopathy as the initial symptom.We present the case of a girl who exhibited dilated cardiomyopathy,heart failure,developmental delay,and subsequently experienced epileptic seizures and multiple organ failure.Whole-exome sequencing revealed that she had a homozygous recessive mutation in the MIPEP gene.Mitochondrial dysfunction can affect single or multiple organs.In cases of cardiomyopathy or heart failure with no identifiable cause,mitochondrial disease should be considered as a potential diagnosis.Furthermore,cooperating with Clinical Genetics,Neurology,and other relevant departments is necessary for a comprehensive approach to diagnosis and treatment.
作者
祝玉
王慧君
姜娜
叶明
宓亚平
ZHU Yu;WANG Huijun;JIANG Na;YE Ming;MI Yaping(Children's Hospital of Fudan University,Cardiovascular Center,Shanghai 201102,China;Children's Hospital of Fudan University,Center for Molecular Medicine,Shanghai 201102,China)
出处
《中国循证儿科杂志》
北大核心
2025年第2期146-149,共4页
Chinese Journal of Evidence Based Pediatrics
基金
复旦大学附属儿科医院“青苗计划”:EKQM202425。
