[Hepatocyte nuclear factor 1α-inactivated hepatocellular adenomatosis in a patient with maturity-onset diabetes of the young type 3: case report and literature review].
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.
Department of Gastroenterology, Kitasato University, Kitasato Institute Hospital.
Eri
E
Hirata
Sayaka
S
Shimizu
Satoko
S
Umeda
Taku
T
Kobayashi
Masaru
M
Nakano
Hajime
H
Higuchi
Hiroshi
H
Serizawa
Naoko
N
Iwasaki
Shojiro
S
Morinaga
Satoshi
S
Tsunematsu
D018248:Adenoma, Liver Cell / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications*; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008113:Liver Neoplasms / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha