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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.

DOI:10.3389/fgene.2023.1132772
PMID:37007940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10050546/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47b7/10050546/03aa2a5f1378/fgene-14-1132772-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47b7/10050546/03aa2a5f1378/fgene-14-1132772-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47b7/10050546/03aa2a5f1378/fgene-14-1132772-g001.jpg

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本文引用的文献

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BMC Endocr Disord. 2021 Nov 11;21(1):223. doi: 10.1186/s12902-021-00891-7.
2
A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in , , , and Genes.匈牙利青少年发病的成年型糖尿病患者综合分析——第一部分：基因panel测序揭示了 、 、 、 和 基因中的致病突变。
Life (Basel). 2021 Jul 27;11(8):755. doi: 10.3390/life11080755.
3
ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications.
青少年发病的成年型糖尿病12型中的ABCC8基因变异：文献综述及1例严重并发症病例报告
Diabetes Metab Res Rev. 2021 Nov;37(8):e3459. doi: 10.1002/dmrr.3459. Epub 2021 May 20.
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-Related Maturity-Onset Diabetes of the Young (MODY12): A Report of a Chinese Family.-青少年发病的成年型糖尿病 12 型（MODY12）：一个中国家庭的报告。
Front Endocrinol (Lausanne). 2020 Sep 11;11:645. doi: 10.3389/fendo.2020.00645. eCollection 2020.
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ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective.ABCC8相关的青年发病型糖尿病（MODY12）：临床特征与治疗前景
Diabetes Ther. 2016 Sep;7(3):591-600. doi: 10.1007/s13300-016-0192-9. Epub 2016 Aug 18.
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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.早期全面基因组检测对新生儿糖尿病临床护理的影响：一项国际队列研究。
Lancet. 2015 Sep 5;386(9997):957-63. doi: 10.1016/S0140-6736(15)60098-8. Epub 2015 Jul 28.
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Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.新生儿糖尿病中ABCC8基因的激活突变
N Engl J Med. 2006 Aug 3;355(5):456-66. doi: 10.1056/NEJMoa055068.