title: Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016.
abstract: 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.
authors.affiliation: The Children's Hospital of Philadelphia Congenital Hyperinsulinism Center and the Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Diva D
authors.initials: DD
authors.lastname: De Leon
authors.affiliation: The Children's Hospital of Philadelphia Congenital Hyperinsulinism Center and the Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Charles A
authors.initials: CA
authors.lastname: Stanley
mesh_terms: D000465:Algorithms; D002648:Child; D044903:Congenital Hyperinsulinism / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy*; D003226:Congresses as Topic; D006801:Humans; D007003:Hypoglycemia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007231:Infant, Newborn; D015143:Philadelphia; D010818:Practice Patterns, Physicians' / Q000639:trends; D016896:Treatment Outcome
keywords: hyperinsulinism; hypoglycemia; insulin; neonatal; pancreas