Diagnosis and management of hyperinsulinaemic hypoglycaemia

Sonya Galcheva, Sara Al-Khawaga, Khalid Hussain

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Hyperinsulinaemic hypoglycaemia (HH) is a heterogeneous condition with dysregulated insulin secretion which persists in the presence of low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. Recent advances in genetics have linked congenital HH to mutations in 14 different genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1, PPM2, CACNA1D, FOXA2). Histologically, congenital HH can be divided into 3 types: diffuse, focal and atypical. Due to the biochemical basis of this condition, it is essential to diagnose and treat HH promptly in order to avoid the irreversible hypoglycaemic brain damage. Recent advances in the field of HH include new rapid molecular genetic testing, novel imaging methods (18F-DOPA PET/CT), novel medical therapy (long-acting octreotide formulations, mTOR inhibitors, GLP-1 receptor antagonists) and surgical approach (laparoscopic surgery). The review article summarizes the current diagnostic methods and management strategies for HH in children.

Original languageEnglish
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
DOIs
Publication statusAccepted/In press - 1 Jan 2018

Fingerprint

Hypoglycemia
Insulin
Octreotide
Genetic Testing
Hypoglycemic Agents
Laparoscopy
Blood Glucose
Molecular Biology
Newborn Infant
Mutation
Brain
Genes

Keywords

  • diazoxide
  • hyperinsulinism
  • hypoglycaemia
  • octreotide
  • sirolimus

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Diagnosis and management of hyperinsulinaemic hypoglycaemia. / Galcheva, Sonya; Al-Khawaga, Sara; Hussain, Khalid.

In: Best Practice and Research: Clinical Endocrinology and Metabolism, 01.01.2018.

Research output: Contribution to journalArticle

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