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

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

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1132772

DOI=10.3389/fgene.2023.1132772

ISSN=1664-8021

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