An update on congenital hyperinsulinism: advances in diagnosis and management

作者：Arnoux Jean Baptiste^*; Saint Martin Cecile; Montravers Francoise; Verkarre Virginie; Galmiche Louise; Telion Caroline; Capito Carmen; Robert Jean Jacques; Hussain Khalid; Aigrain Yves; Bellanne Chantelot Christine; de Lonlay Pascale

来源：Expert Opinion on Orphan Drugs, 2014, 2(8): 779-795.

DOI：10.1517/21678707.2014.925392

• ABCC8
• congenital hyperinsulinism
• diazoxide
• (18)fluorine-L-dihydroxyphenylalanine positron emission tomography scan
• octreotide
• pancreatectomy

Introduction: Congenital hyperinsulinism (CHI) is the term used for hyperinsulinemic hypoglycemia due to a primary defect of the pancreatic beta-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.
Areas covered: 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.
Expert opinion: 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.

• 出版日期2014-8