AUTHOR=Ge Shenghui , Yang Mengge , Gong Wenfeng , Chen Wenzhe , Dong Jianjun , Liao Lin 

TITLE=Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis

JOURNAL=Frontiers in Endocrinology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2022.917819

DOI=10.3389/fendo.2022.917819

ISSN=1664-2392

ABSTRACT=<sec><title>Background</title><p>Maturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (<italic>HNF1B</italic>) gene.</p></sec><sec><title>Case Presentation</title><p>We reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the <italic>HNF1B</italic> score was estimated as 13 and a heterozygous variant of <italic>HNF1B</italic> in exon 4 (c.826C&gt;T, p.Arg276*) was identified through Sanger sequencing.</p></sec><sec><title>Conclusions</title><p>Multiple renal cysts and youth-onset diabetes are common manifestations in patients with <italic>HNF1B</italic> mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5.</p></sec>