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.

• Authors: Shenghui Ge, Mengge Yang, Wenfeng Gong, Wenzhe Chen, Jianjun Dong, Lin Liao
• Journal: Frontiers in endocrinology (Front Endocrinol (Lausanne)) Vol. 13 Pg. 917819 ( 2022) ISSN: 1664-2392 [Print] Switzerland
• PMID: 35992134 (Publication Type: Case Reports, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2022 Ge, Yang, Gong, Chen, Dong and Liao.

Chemical References

• HNF1B protein, human
• Hepatocyte Nuclear Factor 1-beta

Topics

• Adolescent
• Diabetes Mellitus, Type 2 (complications, genetics)
• Diabetic Ketoacidosis (complications, genetics)
• Hepatocyte Nuclear Factor 1-beta (genetics)
• Humans
• Kidney Diseases, Cystic (complications, genetics)
• Mutation
• Young Adult