伴有 -MODY12 的严重肾病综合征和早期终末期糖尿病肾病：一例报告
Severe nephrotic syndrome and early end-stage diabetic kidney disease in -MODY12: A case report.
作者信息
Schmidt Sophie H, Barnas Ursula, Aigner Christof, Wolf Peter, Kozakowski Nicolas, Kain Renate, Scherer Thomas, Schmidt Alice, Sunder-Plassmann Gere
机构信息
Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria.
Medical School, Sigmund Freud University, Vienna, Austria.
出版信息
Front Genet. 2023 Mar 15;14:1132772. doi: 10.3389/fgene.2023.1132772. eCollection 2023.
A 24-year-old man with diabetes mellitus presented with advanced kidney disease and severe proteinuria. Genetic testing revealed -MODY12 (OMIM 600509), and a kidney biopsy showed nodular glomerulosclerosis. He commenced dialysis shortly thereafter, and glycemic control improved on treatment with a sulfonylurea. Diabetic end-stage kidney disease in patients with -MODY12 has not been reported until now. Thus, our case highlights the risk for early-onset and severe diabetic kidney disease in patients with -MODY12 and the importance of timely genetic diagnosis in unusual cases of diabetes to allow for proper treatment and prevention of late sequelae of diabetes.
一名24岁的糖尿病男性患者出现晚期肾病和严重蛋白尿。基因检测显示为-MODY12（在线人类孟德尔遗传数据库编号600509），肾脏活检显示结节性肾小球硬化。此后不久他开始透析，使用磺脲类药物治疗后血糖控制得到改善。此前尚未有关于-MODY12患者发生糖尿病终末期肾病的报道。因此，我们的病例突出了-MODY12患者发生早发性和严重糖尿病肾病的风险，以及在不寻常糖尿病病例中及时进行基因诊断对于给予恰当治疗和预防糖尿病晚期后遗症的重要性。
Zotero 插件