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

Front Endocrinol (Lausanne). 2022 Aug 5:13:917819. doi: 10.3389/fendo.2022.917819. eCollection 2022.

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.

Keywords: HNF1B; MODY5; case; diagnosis; mutation; renal cysts and diabetes syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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

Supplementary concepts

  • Mason-Type Diabetes