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

ABSTRACT:

Background

Maturity-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 presentation

We 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.

Conclusions

Multiple 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.

SUBMITTER: Ge S

PROVIDER: S-EPMC9388818 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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

Ge Shenghui S Yang Mengge M Gong Wenfeng W Chen Wenzhe W Dong Jianjun J Liao Lin L

Frontiers in endocrinology 20220805

<h4>Background</h4>Maturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (<i>HNF1B</i>) gene.<h4>Case presentation</h4>We reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the <i>HNF1B</i> score was estimated as 13 and a heterozygous variant of <i>HNF1B</i> in exon 4 (c.826C>T, p.Arg276*) was identified through Sanger sequencing.<h4>C ...[more]

PMID: 35992134

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