Hepatocyte nuclear factor（HNF）1α不活化型の多発肝細胞腺腫を発症したmaturity-onset diabetes of the young type 3（MODY3）の1例

平田 恵理; 清水 清香; 梅田 智子; 小林 拓; 中野 雅; 樋口 肇; 芹澤 宏; 岩崎 直子; 森永 正二郎; 常松 令

doi:10.11405/nisshoshi.112.1696

Case report

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

Eri HIRATA, Sayaka SHIMIZU, Satoko UMEDA, Taku KOBAYASHI, Masaru NAKANO, Hajime HIGUCHI, Hiroshi SERIZAWA, Naoko IWASAKI, Shojiro MORINAGA, Satoshi TSUNEMATSU

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JOURNAL FREE ACCESS

2015 Volume 112 Issue 9 Pages 1696-1704

DOI https://doi.org/10.11405/nisshoshi.112.1696

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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.

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