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

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.

• Authors: Eri Hirata, Sayaka Shimizu, Satoko Umeda, Taku Kobayashi, Masaru Nakano, Hajime Higuchi, Hiroshi Serizawa, Naoko Iwasaki, Shojiro Morinaga, Satoshi Tsunematsu
• Journal: Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology (Nihon Shokakibyo Gakkai Zasshi) Vol. 112 Issue 9 Pg. 1696-704 ( 2015) ISSN: 0446-6586 [Print] Japan
• PMID: 26346360 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

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

Topics

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