Congenital Hyperinsulinism

This unique book is a practical guide for the clinician faced with the challenge of diagnosing and managing neonates, infants and children with congenital hyperinsulinism (HI), within the framework of pathophysiology and molecular genetics. Major advances have been made in HI research over the past two decades, and with this better understanding of the molecular genetics of HI, a "personalized" approach to management according to the type of hyperinsulinism, and particularly according to the likelihood of focal hyperinsulinism, is starting to emerge. The opening chapter discusses HI diagnosis using biochemical approaches and phenotype characterization. The various forms of HI are then presented in detail in three main categories: diazoxide-responsive, diazoxide-unresponsive and syndromic HI. Both medical and surgical management strategies are then discussed, covering imaging, histology, surgical approach, and post-operative management. Complications, such as feeding problems, andlong-term outcomes, such as neurodevelopmental issues, are carefully considered in the final chapter. Practical and user-friendly, Congenital Hyperinsulinism is the go-to resource for pediatric endocrinologists, residents and fellows, general pediatricians and neonatologists.

Auteur

Diva D. De León-Crutchlow, MD, MSCE, Associate Professor of Pediatrics, Chief, Division of Endocrinology and Diabetes, Director, Congenital Hyperinsulinism Center, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

Charles A. Stanley, MD, Emeritus Professor of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

Contenu
Approach to the Diagnosis of Neonates and Infants with Persistent Hypoglycemia.- Diazoxide-Responsive Forms of Congenital Hyperinsulinism.- Diazoxide-Unresponsive Forms of Congenital Hyperinsulinism.- Syndromic Causes of Congenital Hyperinsulinism.- Molecular Diagnosis of Congenital Hyperinsulinism.- Medical Management of Hyperinsulinism.- 18F-DOPA PET.- Histopathology of the Pancreas in Congenital Hyperinsulinism.- Surgery for Congenital Hyperinsulinism.- Perioperative Management of Hyperinsulinism.- Management of the Child with Persistent Hypoglycemia After Surgery.- Management of Diabetes and Pancreatic Insufficiency after Pancreatectomy.- Feeding Problems in Congenital Hyperinsulinism.- Neurodevelopmental Outcomes.