MYH9基因突变伴糖尿病肾脏疾病一例报道  

MYH9 gene mutation assocciated with diabeitc kidney disease:a case report

作　　者：鄂静[1] 马丹娜 刘顺瑶 张国庆 陆晓华[1] 郑亚莉[1] E Jing;MA Danna;LIU Shunyao(Department of Nephrology,Ningria People's Hospital,Yinchuan 750002,China)

机构地区：[1]宁夏回族自治区人民医院肾脏内科,银川750002

出　　处：《中国糖尿病杂志》2023年第5期382-385,共4页Chinese Journal of Diabetes

基　　金：国家自然科学基金(81860136);宁夏回族自治区自然科学基金(2022AAC03379、2020AAC03332);宁夏回族自治区重点研发计划项目(2022ZDYF0137)。

摘　　要：采用全外显子基因检测发现DKD患者携带MYH9基因(chr22:36681789,rs1254152525,C>T)突变,出现肾脏、肝脏、眼部受累,诊断为DKD合并MYH9基因突变,分析MYH9相关疾病特点,为临床诊治提供依据。Through whole exon sequencing,we found a patient with diabeitc kidney disease(DKD)carried a mutation in MYH9 gene(chr22:36681789,rs1254152525,C>T),resulting in kidney,liver,and eye involvement.This patient was diagnosed with DKD combined with MYH9 gene mutation.The characteristics of MYH9 related diseases were analyzed and provided evidences for clinical diagnosis and treatment.

关 键 词：MYH9基因 糖尿病肾脏疾病 非肌肉肌球蛋白重链ⅡA 

分 类 号：R587.2[医药卫生—内分泌] R692.9[医药卫生—内科学]