An update on congenital hyperinsulinism: advances in diagnosis and management. (August 2014)

• Record Type: Journal Article
• Authors: Arnoux, Jean-Baptiste; Saint-Martin, Cécile; Montravers, Françoise; Verkarre, Virginie; Galmiche, Louise; Télion, Caroline; Capito, Carmen; Robert, Jean-Jacques; Hussain, Khalid; Aigrain, Yves; Bellanné-Chantelot, Christine; de Lonlay, Pascale
• Is Part Of: Expert opinion on orphan drugs. Volume 2:Number 8(2014:Aug.)
• Page Start: 779
• Page End: 795
• Publication Date: 2014-08
• Subjects: Orphan drugs -- Periodicals; Rare diseases -- Periodicals; Chemotherapy -- Periodicals; 615.1
• DOI: 10.1517/21678707.2014.925392
• Languages: English
• ISSNs: 2167-8707

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold> <italic>Introduction:</italic> </bold> Congenital hyperinsulinism (CHI) is the term used for hyperinsulinemic hypoglycemia due to a primary defect of the pancreatic β-cell owing to genetic causes. Severe CHI is responsible for recurrent severe hypoglycemia in neonates. A delayed diagnosis or improper medical management is responsible for brain damage in approximately one-third of patients.</p> <p> <bold> <italic>Areas covered:</italic> </bold> From the experiences of the authors and an extensive review of the literature, this review aims to offer a precise overview of the current knowledge in the field of CHI, including the latest updates, and a description of the current medical and surgical management proposed in referral centers for CHI worldwide.</p> <p> <bold> <italic>Expert opinion:</italic> </bold> Despite satisfactory care of the focal form of CHI, severe diffuse CHI is a burden for patients and families, and a subtotal pancreatectomy only offers a short-term respite, since insulin requiring diabetes is the unavoidable outcome. A better understanding of the disease mechanisms (e.g., concerning spontaneous remission) and the development of new therapeutic tools should lead to a safe conservative approach for severe, focal and diffuse CHI.</p> </abstract>