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

靳远萌 ¹张春丽 ¹徐静 ¹谢静远¹

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作者信息

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
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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.

Abstract

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

Key words

MYH9 gene/non-muscle myosin heavy chainⅡA/glomerular minor lesion

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出版年

2024

罕见病研究

CSTPCD

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