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

BackgroundMaturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene. Case PresentationWe reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In...

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Bibliographic Details
Published in:Frontiers in endocrinology 2022, Vol.13, p.917819-917819
Main Authors: Ge, Shenghui, Yang, Mengge, Gong, Wenfeng, Chen, Wenzhe, Dong, Jianjun, Liao, Lin
Format: Report
Language:English
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Summary:BackgroundMaturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene. Case PresentationWe reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the HNF1B score was estimated as 13 and a heterozygous variant of HNF1B in exon 4 (c.826C>T, p.Arg276*) was identified through Sanger sequencing. ConclusionsMultiple renal cysts and youth-onset diabetes are common manifestations in patients with HNF1B mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5.
ISSN:1664-2392
1664-2392
DOI:10.3389/fendo.2022.917819