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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
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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.
作者 鄂静 马丹娜 刘顺瑶 张国庆 陆晓华 郑亚莉 E Jing;MA Danna;LIU Shunyao(Department of Nephrology,Ningria People's Hospital,Yinchuan 750002,China)
机构地区 宁夏回族自治区人民医院肾脏内科
出处 《中国糖尿病杂志》 CAS CSCD 北大核心 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)。
关键词 MYH9基因 糖尿病肾脏疾病 非肌肉肌球蛋白重链ⅡA MYH9 gene Diabeitc kidney disease Non muscle myosin heavy chain IIA
分类号 R587.2 [医药卫生—内分泌] R692.9 [医药卫生—泌尿科学]
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中国糖尿病杂志
2023年 第5期

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