通过腹腔动脉血管造影术评估的一名青少年发病的成年型糖尿病5型患者的胰腺发育缺陷
Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5.
作者信息
Iwasaki Naoko, Tsurumi Masashi, Asai Kuniya, Shimuzu Wataru, Watanabe Atsushi, Ogata Makiko, Takizawa Miho, Ide Risa, Yamamoto Toshiyuki, Saito Kayoko
机构信息
Diabetes Center, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute of Medical Genetics, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Science, Tokyo, Japan.
Department of Cardiovascular Medicine, Nippon Medical School , Tokyo, Japan.
出版信息
Hum Genome Var. 2016 Jul 14;3:16022. doi: 10.1038/hgv.2016.22. eCollection 2016.
The hepatocyte nuclear factor 1β gene (HNF1B) is responsible for maturity-onset diabetes of the young type 5 (MODY5), which is characterized by early-onset diabetes mellitus and urogenital malformations. HNF1B is expressed during visceral endoderm formation. We identified a disruption of the great pancreatic artery in a patient with MODY5 with no pancreatic body or tail. Our finding supports the significance of HNF1B in the development of the pancreas.
肝细胞核因子1β基因（HNF1B）与青年发病的成年型糖尿病5型（MODY5）有关，其特征为早发性糖尿病和泌尿生殖系统畸形。HNF1B在内脏内胚层形成过程中表达。我们在一名无胰体或胰尾的MODY5患者中发现了胰大动脉中断。我们的发现支持了HNF1B在胰腺发育中的重要性。
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