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.
CITATION STYLE
Schmidt, S. H., Barnas, U., Aigner, C., Wolf, P., Kozakowski, N., Kain, R., … Sunder-Plassmann, G. (2023). Severe nephrotic syndrome and early end-stage diabetic kidney disease in ABCC8-MODY12: A case report. Frontiers in Genetics, 14. https://doi.org/10.3389/fgene.2023.1132772
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