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

Sophie H. Schmidt; 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

Frontiers in Genetics (Mar 2023)

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

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

Affiliations

Sophie H. Schmidt: Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria
Sophie H. Schmidt: Medical School, Sigmund Freud University, Vienna, Austria
Ursula Barnas: Department of Medicine I, Clinic Landstraße, Vienna Healthcare Group, Vienna, Austria
Christof Aigner: Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria
Peter Wolf: Department of Medicine III, Division of Endocrinology and Metabolism, Medical University of Vienna, Vienna, Austria
Nicolas Kozakowski: Department of Pathology, Medical University of Vienna, Vienna, Austria
Renate Kain: Department of Pathology, Medical University of Vienna, Vienna, Austria
Thomas Scherer: Department of Medicine III, Division of Endocrinology and Metabolism, Medical University of Vienna, Vienna, Austria
Alice Schmidt: Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria
Gere Sunder-Plassmann: Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria

DOI: https://doi.org/10.3389/fgene.2023.1132772
Journal volume & issue: Vol. 14

Abstract

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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.

Published in Frontiers in Genetics

ISSN: 1664-8021 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Science: Biology (General): Genetics
Website: http://journal.frontiersin.org/journal/genetics

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Abstract

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