ReviewJournal of inherited metabolic disease2012
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.
Review in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed.
- [Clinical practice guidelines "Congenital hyperinsulinism"].Problemy endokrinologii · 2026Review
- [Exercise-induced hyperinsulinism: genetic basis and clinical management].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- Neonatal Congenital Hyperinsulinism: A Case-Based Contribution to the Understanding of a Rare Disorder.Cureus · 2025Article
- An Alternative Mechanism of Glutamate Dehydrogenase Inhibition by EGCG: Promotion of Protein Degradation.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Successful Management of an Infant with Congenital Focal Hyperinsulinism with No Apparent Lesion During Surgery.Sisli Etfal Hastanesi tip bulteni · 2025Article
- Improved Localization of Insulinomas UsingJournal of nuclear medicine : official publication, Society of Nuclear Medicine · 2024Article
- Article
- The key mediator of diabetic kidney disease: Potassium channel dysfunction.Genes & diseases · 2024Review
- A Focal Form of Diazoxide-resistant Congenital Hyperinsulinism with Good Response to Long-acting Somatostatin.Journal of the ASEAN Federation of Endocrine Societies · 2024Article
- Case report: A novelFrontiers in endocrinology · 2024Article
- Methods for mediation analysis with high-dimensional DNA methylation data: Possible choices and comparisons.PLoS genetics · 2023Article
- A Novel Somatic Mutation Implicates ATP6V0D1 in Proinsulin Processing.Journal of the Endocrine Society · 2023Article
- Congenital Hyperinsulinaemic Hypoglycaemia-A Review and Case Presentation.Journal of clinical medicine · 2022Review
- Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism-The UK Perspective.Journal of the Endocrine Society · 2022Article
- Article
- Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques.Frontiers in pediatrics · 2022Review
- Sirolimus in infants with congenital hyperinsulinism (CHI) - a single-centre experience.European journal of pediatrics · 2022Article
- The Placenta as a Target of Epigenetic Alterations in Women with Gestational Diabetes Mellitus and Potential Implications for the Offspring.Epigenomes · 2021Review
- Sirolimus Therapy and Follow-up in a Patient with Severe Congenital Hyperinsulinism Following Subtotal PancreatectomyJournal of clinical research in pediatric endocrinology · 2021Article
- Differential Morphological Diagnosis of Various Forms of Congenital Hyperinsulinism in Children.Frontiers in endocrinology · 2021Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Hyperinsulinaemic hypoglycaemia (HH) is due to the unregulated secretion of insulin from pancreatic β-cells. A rapid diagnosis and appropriate management of these patients is essential to prevent the potentially associated complications like epilepsy, cerebral palsy and neurological impairment. The molecular basis of HH involves defects in key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and UCP2) which regulate insulin secretion. The most severe forms of HH are due to loss of function mutations in ABCC8/KCNJ11 which encode the SUR1 and KIR6.2 components respectively of the pancreatic β-cell K(ATP) channel. At a histological level there are two major forms (diffuse and focal) each with a different genetic aetiology. The diffuse form is inherited in an autosomal recessive (or dominant) manner whereas the focal form is sporadic in inheritance and is localised to a small region of the pancreas. The focal form can now be accurately localised pre-operatively using a specialised positron emission tomography scan with the isotope Fluroine-18L-3, 4-dihydroxyphenyalanine (18F-DOPA-PET). Focal lesionectomy can provide cure from the hypoglycaemia. However the diffuse form is managed medically or by near total pancreatectomy (with high risk of diabetes mellitus). Recent advances in molecular genetics, imaging with 18F-DOPA-PET/CT and novel surgical techniques have changed the clinical approach to patients with HH.
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