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Your search keyword '"Shimizu, Sayaka"' showing total 2 results
Start Over Author "Shimizu, Sayaka" Language japanese
2 results on '"Shimizu, Sayaka"'

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

Author

Hirata E, Shimizu S, Umeda S, Kobayashi T, Nakano M, Higuchi H, Serizawa H, Iwasaki N, Morinaga S, and Tsunematsu S

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

Published
2015
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