ReviewJournal of clinical research in pediatric endocrinology2012
Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.
Review in Journal of clinical research in pediatric endocrinology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children.The Journal of pediatrics · 2015Guideline
- Transplacental transfer of glyburide in women with gestational diabetes and neonatal hypoglycemia risk.PloS one · 2020Trial
- Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism.British journal of clinical pharmacology · 2018Trial
- From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review.Frontiers in pharmacology · 2026Review
- Incidence, predictors and outcomes of redo pancreatectomy in infants with congenital hyperinsulinism: a 16-year tertiary center experience.Pediatric surgery international · 2023Review
- Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital HyperinsulinismJournal of clinical research in pediatric endocrinology · 2022Article
- Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.Annals of pediatric endocrinology & metabolism · 2021Article
- Case Report: A Difficult-to-Diagnose Case of Hyperinsulinemic Hypoglycemia Surgically Treated After Developing Acute Pancreatitis.Frontiers in endocrinology · 2021Article
- An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.Frontiers in endocrinology · 2021Review
- Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case ConcerningEuropean endocrinology · 2020Article
- Higher C-peptide levels and glucose requirements may identify neonates with transient hyperinsulinism hypoglycemia who will benefit from diazoxide treatment.European journal of pediatrics · 2020Article
- Thrombocytopaenia: a serious side effect of diazoxide.BMJ case reports · 2019Article
- Transient neonatal hyperinsulinaemic hypoglycaemia: perinatal predictors of length and cost of stay.European journal of pediatrics · 2018Article
- Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years.Journal of clinical research in pediatric endocrinology · 2017Review
- Development of Pulmonary Hypertension During Treatment with Diazoxide: A Case Series and Literature Review.Pediatric cardiology · 2017Review
- Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.Journal of the American Society of Nephrology : JASN · 2017Article
- Clinical practice guidelines for congenital hyperinsulinism.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2017Article
- Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.Journal of clinical research in pediatric endocrinology · 2016Review
- Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.Journal of clinical research in pediatric endocrinology · 2016Article
- A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.Journal of medical case reports · 2016Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Hyperinsulinaemic hypoglycaemia (HH) is characterized by unregulated insulin secretion from pancreatic β-cells. Untreated hypoglycaemia in infants can lead to seizures, developmental delay, and subsequent permanent brain injury. Early identification and meticulous managementof these patients is vital to prevent neurological insult. Mutations in eight different genes (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2) have been identified to date in patients with congenital forms of hyperinsulinism (CHI). The most severe forms of CHI are due to mutations in ABCC8 and KCJN11, which encode the two components of pancreatic β-cell ATP-sensitive potassium channel. Recent advancement in understanding the genetic aetiology, histological characterisation into focal and diffuse variety combined with improved imaging (such as fluorine 18 L-3, 4-dihydroxyphenylalanine positron emission tomography 18F-DOPA-PET scanning) and laparoscopic surgical techniques have greatly improved management. In adults, HH can be due to an insulinoma, pancreatogenous hypoglycaemic syndrome, post gastric-bypass surgery for morbid obesity as well as to mutations in insulin receptor gene. This review provides an overview of the molecular basis of CHI and outlines the clinical presentation, diagnostic criteria, and management of these patients.
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