摘要
甲基丙二酸血症(MMA)是一组可治可防的罕见病,是我国最常见的有机酸尿症。MMA患者基因型复杂,可在胎儿至成年发病,致死及致残率很高。如果不能及时治疗,多数患者发生神经精神疾病及多脏器损害,导致癫痫、智力运动落后、贫血、脑积水、心肌病、肺动脉高压、肾功能不全、视力损害等多种疾病。MMA患者显著的表型及预后差异取决于疾病类型及治疗,新生儿筛查、产前诊断及早期规范治疗是改善预后的关键。为降低MMA引起的死亡及残障,新生儿、重症医学、遗传、代谢、神经、心血管、肾脏、外科、产科、医学检验、药学、营养、康复等多学科合作至关重要。
Methylmalonic acidemia(MMA)is a rare disease which can be prevented and treated.It is the most common organic aciduria in China.MMA has complex genotypes,and its onset varies from the fetal stage to adulthood,which with a high mortality and disability rate.If the treatment is delayed,most patients with MMA would suffer from neuropsychiatric disorders and multiple-organ damage,resulting in epilepsies,psychomotor retardation,anemia,hydrocephalus,cardiomyopathy,pulmonary hypertension,renal insufficiency and visual impairment,and so on.The significant phenotypic and outcomes differences of MMA patients depend on the disease types and the treatment.Newborn screening,prenatal diagnosis and early standardized treatment are the keys to improve the prognosis of the patients.To reduce the mortality and sequelae caused by MMA,multi-disciplinary interventions by neonatologists,critical care experts,geneticists,metabolic specialists,neurologists,cardiologists,nephrologists,pediatric surgeons,obstetricians,medical laboratory physicians,pharmacists,nutritionist and rehabilitation therapists are important.
作者
杨艳玲
莫若
陈哲晖
Yang Yanling;Mo Ruo;Chen Zhehui(Department of Pediatrics,Peking University First Hospital,Beijing 100034,China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2020年第9期647-652,共6页
Chinese Journal of Applied Clinical Pediatrics
基金
国家重点研发计划(2017YFC1001700,2019YFC1005100)。
关键词
甲基丙二酸血症
有机酸尿症
罕见病
遗传代谢病
多脏器损害
多学科合作
Methylmalonic acidemia
Organic aciduria
Rare disease
Inherited metabolic disorders
Multiple organ damage
Multi-disciplinary collaboration
