Severe nephrotic syndrome and early end-stage diabetic kidney disease in ABCC8-MODY12: A case report

被引：0

作者：

Schmidt, Sophie H. H. ^{[1
,2
]}

Barnas, Ursula ^{[3
]}

Aigner, Christof ^{[1
]}

Wolf, Peter ^{[4
]}

Kozakowski, Nicolas ^{[5
]}

Kain, Renate ^{[5
]}

Scherer, Thomas ^{[4
]}

Schmidt, Alice ^{[1
]}

Sunder-Plassmann, Gere ^{[1
]}

机构：

[1] Med Univ Vienna, Dept Med 3, Div Nephrol & Dialysis, Vienna, Austria

[2] Sigmund Freud Univ, Med Sch, Vienna, Austria

[3] Vienna Healthcare Grp, Dept Med 1, Clin Landstr, Vienna, Austria

[4] Med Univ Vienna, Dept Med 3, Div Endocrinol & Metab, Vienna, Austria

[5] Med Univ Vienna, Dept Pathol, Vienna, Austria

来源：

FRONTIERS IN GENETICS | 2023年 / 14卷

关键词：

ABCC8; gene; MODY; diabetes mellitus; end-stage kidney disease; nodular glomerulosclerosis; sulfonylurea; case report;

D O I：

10.3389/fgene.2023.1132772

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 24-year-old man with diabetes mellitus presented with advanced kidney disease and severe proteinuria. Genetic testing revealed ABCC8-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 ABCC8-MODY12 has not been reported until now. Thus, our case highlights the risk for early-onset and severe diabetic kidney disease in patients with ABCC8-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.

引用

页数：4

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