ReviewJournal of clinical research in pediatric endocrinology2015
The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.
Review in Journal of clinical research in pediatric endocrinology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism.British journal of clinical pharmacology · 2018Trial
- Metastatic proinsulin-secreting tumor: a rare cause of persistent hypoglycemia.JCEM case reports · 2026Article
- Prevalence and safety of diazoxide in the neonatal intensive care unit.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Diazoxide-Responsive Congenital Hyperinsulinism in a Preterm Infant With HomozygousCase reports in endocrinology · 2026Article
- FSCN1-mediated hepatic gluconeogenesis is indispensable for neonatal mice survival.Acta biochimica et biophysica Sinica · 2025Article
- Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease.Medical sciences (Basel, Switzerland) · 2025Review
- Article
- Congenital Hyperinsulinism Caused by Mutations inInternational journal of molecular sciences · 2024Article
- [Expert consensus on the diagnosis and treatment of neonatal hyperammonemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Maltodextrin May Be a Promising Treatment Modality After Near-total Pancreatectomy in Infants Younger Than Six Months with Persistent Hyperinsulinism: A Case ReportJournal of clinical research in pediatric endocrinology · 2023Article
- Congenital Hyperinsulinaemic Hypoglycaemia-A Review and Case Presentation.Journal of clinical medicine · 2022Review
- Clinical and genetic characteristics of patients with congenital hyperinsulinism in 21 non-consanguineous families from Serbia.European journal of pediatrics · 2021Article
- Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.Annals of pediatric endocrinology & metabolism · 2021Article
- Necrotizing Enterocolitis in Neonates With Hyperinsulinemic Hypoglycemia Treated With Diazoxide.Pediatrics · 2021Article
- Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.Reviews in endocrine & metabolic disorders · 2020Review
- A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia.Channels (Austin, Tex.) · 2020Article
- Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience.Italian journal of pediatrics · 2020Article
- Congenital hyperinsulinism: management and outcome, a single tertiary centre experience.European journal of pediatrics · 2020Article
- Altered Serum Amino Acid and Acylcarnitine Profiles in Hyperinsulinemic Hypoglycemia and Ketotic Hypoglycemia.Frontiers in endocrinology · 2020Article
- Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South ChinaJournal of clinical research in pediatric endocrinology · 2019Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Insulin secretion from pancreatic β-cells is tightly regulated to keep fasting blood glucose concentrations within the normal range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is a heterozygous condition in which insulin secretion becomes unregulated and its production persists despite low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. The most severe and permanent forms are due to congenital hyperinsulinism (CHI). Recent advances in genetics have linked CHI to mutations in 9 genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A and HNF1A). Histologically, CHI can be divided into 3 types; diffuse, focal and atypical. Given the biochemical nature of HH (non-ketotic), a delay in the diagnosis and management can result in irreversible brain damage. Therefore, it is essential to diagnose and treat HH promptly. Advances in molecular genetics, imaging methods (18F-DOPA PET-CT), medical therapy and surgical approach (laparoscopic surgery) have completely changed the management and improved the outcome of these children. This review provides an overview of the genetic and molecular mechanisms leading to development of HH in children. The article summarizes the current diagnostic methods and management strategies for the different types of CHI.
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