MYH9基因突变伴肾小球轻微病变一例  

A Case Report of MYH9 Gene Mutation Associated with Glomerular Minor Lesion

作　　者：靳远萌 张春丽 徐静[1] 谢静远 JIN Yuanmeng;ZHANG Chuni;XU Jing;XIE Jingyuan(Department of Nephrology,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Institute of Nephrology,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院肾脏科,上海交通大学医学院肾脏病研究所,上海200025

出　　处：《罕见病研究》2024年第1期131-135,共5页Journal of Rare Diseases

摘　　要：MYH9突变相关性疾病是一种常染色体显性疾病,发病机制为编码非肌肉肌球蛋白重链ⅡA的MYH9基因突变导致细胞内肌球蛋白异常聚集,进而引起血液系统、眼、耳、肾脏、肝脏等组织器官的功能障碍。肾脏病变异质性大,而且因肾组织获取困难,尚缺乏充分认知和诊疗方案。本文首次报道1例MYH9基因尾端杂合突变患者,肾脏病理提示肾小球轻微病变,合并肾小动脉硬化,同时回顾相关文献,为临床诊疗提供新的依据。Non-muscle myosin heavy chain 9-related disease(MYH9-RD)is an autosomal dominant dis-ease caused by the mutations of the MYH9 gene encoding the non-muscle mysoin heavy chainⅡA and leads to abnormal accumulation of myosin in cells.These further causes functional disorders of the blood,eye,ear,kidney,and liver systems.MYH9-RD displays heterogeneous kidney involvement and outcomes,but doctors still lack understandings of the mechanism and treatment strategies,owing to difficulty of conducting renal bi-opsies.Here,we report a case of MYH9-RD with tail fragments heterozygous mutation,which renal pathology is presented as glomerular minor lesion.Moreover,we reviewed related relevant to strengthen clinical diagnosis and understanding of MYH9-RD.

关 键 词：MYH9基因 非肌肉肌球蛋白重链ⅡA 肾小球轻微病变 

分 类 号：R593[医药卫生—内科学]