The unique clinical spectrum of maturity onset diabetes of the young type 3

Diabetes Res Clin Pract. 2018 Jan:135:18-22. doi: 10.1016/j.diabres.2017.10.024. Epub 2017 Oct 28.

Abstract

Phenotypic variability in maturity-onset diabetes of the young (MODY) makes screening criteria for genomic analysis challenging. We describe the clinical spectrum in a large pedigree with HNF1A-MODY; as generations progressed, the course and outcome became poorer. Although uncommon, pancreatic autoantibodies and diabetes ketoacidosis should not exclude the diagnosis of MODY.

Keywords: Genetics; Hepatocyte nuclear factor 1-alpha (HNF1A); Maturity-onset diabetes of the young (MODY); Mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Diabetes Mellitus, Type 2 / diagnosis
  • Diabetes Mellitus, Type 2 / genetics
  • Female
  • Hepatocyte Nuclear Factor 1-alpha / genetics
  • Hepatocyte Nuclear Factor 1-alpha / metabolism*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Young Adult

Substances

  • Hepatocyte Nuclear Factor 1-alpha

Supplementary concepts

  • Mason-Type Diabetes