ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Hyperinsulinaemic Hypoglycaemia: Genetic Mechanisms, Diagnosis and Management [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2012; 4(4): 169-181 | DOI: 10.4274/Jcrpe.821

Hyperinsulinaemic Hypoglycaemia: Genetic Mechanisms, Diagnosis and Management

Zainaba Mohamed1, Ved Bhushan Arya1, Khalid Hussain1
University College London, Institue Of Child Health, Developmental Endocrinology Research Clinical, Molecular Genetics Unit, London, United Kingdom

Hyperinsulinaemic hypoglycaemia (HH) is characterized by unregulated insulin secretion from pancreatic ß-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 ß-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.

Keywords: Hyperinsulinism,hypoglycaemia in infancy,congenital hyperinsulinism,hyperinsulinaemic hypoglycaemia

Zainaba Mohamed, Ved Bhushan Arya, Khalid Hussain. Hyperinsulinaemic Hypoglycaemia: Genetic Mechanisms, Diagnosis and Management. J Clin Res Pediatr Endocrinol. 2012; 4(4): 169-181
Manuscript Language: English
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