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

Sophie H Schmidt; Ursula Barnas; Christof Aigner; Peter Wolf; Nicolas Kozakowski; Renate Kain; Thomas Scherer; Alice Schmidt; Gere Sunder-Plassmann

doi:10.3389/fgene.2023.1132772

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

Front Genet. 2023 Mar 15:14:1132772. doi: 10.3389/fgene.2023.1132772. eCollection 2023.

Authors

Sophie H Schmidt^{1

2}, Ursula Barnas³, Christof Aigner¹, Peter Wolf⁴, Nicolas Kozakowski⁵, Renate Kain⁵, Thomas Scherer⁴, Alice Schmidt¹, Gere Sunder-Plassmann¹

Affiliations

¹ Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria.
² Medical School, Sigmund Freud University, Vienna, Austria.
³ Department of Medicine I, Clinic Landstraße, Vienna Healthcare Group, Vienna, Austria.
⁴ Department of Medicine III, Division of Endocrinology and Metabolism, Medical University of Vienna, Vienna, Austria.
⁵ Department of Pathology, Medical University of Vienna, Vienna, Austria.

Abstract

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.

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

Publication types

Case Reports