Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. Issue 4 (27th June 2017)

• Record Type: Journal Article
• Authors: Maiorana, Arianna; Dionisi‐Vici, Carlo
• Is Part Of: Journal of inherited metabolic disease. Volume 40:Issue 4(2017)
• Page Start: 531
• Page End: 542
• Publication Date: 2017-06-27
• Subjects: Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1007/s10545-017-0059-x
• Languages: English
• ISSNs: 0141-8955

Abstract

Abstract: Hyperinsulinemic hypoglycemia (HI) is the most common cause of hypoglycemia in children. Impairment of cellular pathways involved in insulin secretion from pancreatic β‐cells, broadly classified as channelopathies and metabolopathies, have been discovered in the past two decades. The increasing use of NGS target panels, combined with clinical, biochemical and imaging findings allows differentiating the diagnostic management of children with focal forms, surgically curable, from those with diffuse forms, more conservatively treated with pharmacological and nutritional interventions. Specific approaches according to the subtype of HI have been established and novel therapies are currently under investigation. Despite diagnostic and therapeutic advances, HI remains an important cause of morbidity in children, still accounting for 26–44% of permanent intellectual disabilities, especially in neonatal‐onset patients. Initial insult from recurrent hypoglycemia in early life greatly contributes to the poor outcomes. Therefore, patients need to be rapidly identified and treated aggressively, and require at follow‐up a complex and regular monitoring, managed by a multidisciplinary HI team. This review gives an overview on the more recent diagnostic and therapeutic tools, on the novel drug and nutritional therapies, and on the long‐term neurological outcomes.