Article
A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by ¹⁸F-DOPA-PET/CT scan.
Gene - 10 Nov 2015
Zhang Wen, Liu Li, Wen Zhe, Cheng Jing, Li Cuiling, Li Xiuzhen, Niu Huilin, Wang Fenghua, Sheng Huiying, Liu Hongsheng
Abstract excerpt
Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in infancy. 18-fluoro-l-3,4-dihydroxyphenylalanine positron emission tomography ((18)F‑DOPA‑PET)/CT is a useful tool in distinguishing between focal and diffuse disease preoperatively. But recent studies have suggested that the scanning may not be...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.