摘要
甲基丙二酸血症(MMA)是一种严重的有机酸血症,可造成生长发育障碍及多系统、多脏器损伤。在我国,自上海新华医院首批开展新生儿串联质谱筛查技术以来,历经二十余年的发展,使得MMA患者在新生儿期甚至尚未出现临床症状前即可实现早期筛查诊断,加上行之有效的治疗手段,患者的生存质量与预后都得到了极大改善。然而,作为一种影响全身功能代谢性的疾病,MMA患者仍有出现神经、肾脏等多脏器并发症的风险。该文围绕MMA患者出现肾脏并发症的临床表现、发生机制、早期检测识别及治疗等方面进行逐一阐述,以期提高临床医师对于MMA肾脏并发症的认识。
Methylmalonic acidemia(MMA)is a severe form of organic acidemia that can cause growth and developmental disorders,as well as multi-system and multi-organ damage.In China,over two decades have passed since Shanghai Xinhua Hospital pioneered the first neonatal tandem mass spectrometry screening techniques.Early screening and diagnosis of patients with MMA can now be achieved in the neonatal period,before clinical symptoms appear.Together with effective treatments,the survival rate and prognosis of MMA patients have greatly improved.However,as MMA is a metabolic disease that affects the whole body,patients are still at risk of neurological,renal,and other multi-organ complications.This article will elaborate on the clinical manifestations,pathogenesis,early detection and recognition,and treatment of renal complications in patients with MMA,with the aim of improving clinicians’understanding of renal complications in MMA.
作者
慕佳霖
孙萌
李育霖
邹卉
Mu Jialin;Sun Meng;Li Yulin;Zou Hui(Neonatal Disease Screening Centre,Ji'nan Maternity and Child Care Hospital Affiliated to Shandong First Medical University,Jinan 250001,China)
出处
《中华临床医师杂志(电子版)》
2025年第5期382-387,共6页
Chinese Journal of Clinicians(Electronic Edition)
基金
山东大学临床医学科技创新计划(202225012)
