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- W2097261678 abstract "Introduction: Congenital hyperinsulinism (CHI) is a rare condition which leads to unregulated insulin secretion causing hyperinsulinemic hypoglycemia. At present, genetic abnormalities in nine different genes have been described which lead to unregulated insulin secretion. Typically CHI presents in the newborn period but it can present in infancy and childhood. The hypoglycemia is usually severe and can lead to brain damage if not managed appropriately. At a histological level, there are two major subtypes of CHI, namely focal and diffuse. The management of diffuse CHI (DCHI) remains a real challenge.Areas covered: This review provides an overview of the clinical characteristics of CHI, the known genetic causes, pancreatic histology, medical management and pharmacology of the medications currently in use.Expert opinion: Until recently, most patients with DCHI required a near total pancreatectomy and nearly all of these patients then develop life-long diabetes mellitus. There is now intensive research focusing on developing medical therapies for children with DCHI, which includes mammalian target of rapamycin (sirolimus), and long acting somatostatin analogs." @default.
- W2097261678 created "2016-06-24" @default.
- W2097261678 creator A5000322092 @default.
- W2097261678 creator A5028293344 @default.
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- W2097261678 date "2015-07-08" @default.
- W2097261678 modified "2023-10-18" @default.
- W2097261678 title "Molecular mechanisms of congenital hyperinsulinism and prospective therapeutic targets" @default.
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- W2097261678 doi "https://doi.org/10.1517/21678707.2015.1064819" @default.
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