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01-07-2017 | SSIEM 2016

Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties

Authors: Arianna Maiorana, Carlo Dionisi-Vici

Published in: Journal of Inherited Metabolic Disease | Issue 4/2017

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.

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Title: Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties
Authors: Arianna Maiorana
Carlo Dionisi-Vici
Publication date: 01-07-2017
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 4/2017
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-017-0059-x

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Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties

Abstract

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

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Other articles of this Issue 4/2017

MtDNA-maintenance defects: syndromes and genes

Cysteamine revisited: repair of arginine to cysteine mutations

Erratum to: What is new in CDG?

Amino acid synthesis deficiencies

Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I

Inherited disorders of transition metal metabolism: an update

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page