Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016

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• 作者：Diva D. De Leon and Charles A. Stanley
• 刊名：Pediatric Diabetes
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：18
• 期：1
• 页码：3-9
• 全文大小：810K
• ISSN：1399-5448

文摘

Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes. Congenital hyperinsulinism (HI) is the most common and severe cause of persistent hypoglycemia in neonates and children. Recent discoveries of the genetic causes of HI have improved our understanding of the pathophysiology, but its management is complex and requires the integration of clinical, biochemical, molecular, and imaging findings to establish the appropriate treatment according to the subtype. Here we present a summary of a recent international symposium on congenital hypoglycemia disorders with emphasis on novel molecular mechanisms resulting in HI, genetic diagnosis, overall approach to management, novel therapies under development, and current outcomes.