[Hepatocyte nuclear factor 1α-inactivated hepatocellular adenomatosis in a patient with maturity-onset diabetes of the young type 3: case report and literature review]

Nihon Shokakibyo Gakkai Zasshi. 2015;112(9):1696-704. doi: 10.11405/nisshoshi.112.1696.
[Article in Japanese]

Abstract

A 19-year-old Japanese woman had been diagnosed with diabetes at the age of 9 years. She had a strong family history of diabetes, and genetic screening showed she had maturity-onset diabetes of the young type 3 (MODY3). Ultrasonography of the liver and magnetic resonance imaging showed multiple nodules consistent with hepatocellular adenoma (HA). Biopsy of the liver tumors revealed hepatocyte nuclear factor (HNF) 1α-inactivated HA. HA is known as a MODY3-related disease due to mutations in HNF1α. We present the first report of HA associated with MODY3 in Japan.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adenoma, Liver Cell / complications
  • Adenoma, Liver Cell / genetics
  • Adenoma, Liver Cell / metabolism*
  • Diabetes Mellitus, Type 2 / complications*
  • Female
  • Hepatocyte Nuclear Factor 1-alpha / genetics
  • Hepatocyte Nuclear Factor 1-alpha / metabolism*
  • Humans
  • Liver Neoplasms / complications
  • Liver Neoplasms / genetics
  • Liver Neoplasms / metabolism*
  • Mutation
  • Pedigree
  • Young Adult

Substances

  • HNF1A protein, human
  • Hepatocyte Nuclear Factor 1-alpha

Supplementary concepts

  • Maturity-Onset Diabetes of the Young, Type 3