Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology
نویسندگان
چکیده
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5-5.5 mmol/L. Insulin, the only glucose lowering hormone secreted from pancreatic β-cells, plays the key role in glucose homeostasis. Insulin release from pancreatic β-cells is mainly regulated by intracellular ATP-generating metabolic pathways. Hyperinsulinaemic hypoglycaemia (HH), the most common cause of severe and persistent hypoglycaemia in neonates and children, is the inappropriate secretion of insulin which occurs despite low plasma glucose levels leading to severe and persistent hypoketotic hypoglycaemia. Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) constitute the underlying molecular mechanisms of congenital HH. Since insulin supressess ketogenesis, the alternative energy source to the brain, a prompt diagnosis and immediate management of HH is essential to avoid irreversible hypoglycaemic brain damage in children. Advances in molecular genetics, imaging methods (18F-DOPA PET-CT), medical therapy and surgical approach (laparoscopic and open pancreatectomy) have changed the management and improved the outcome of patients with HH. This up to date review article provides a background to the diagnosis, molecular genetics, recent advances and therapeutic options in the field of HH in children.
منابع مشابه
Long Term Medical Treatment of Congenital Hyperinsulinaemic Hypoglycaemia
1Department of Endocrinology, King Faisal Specialist Hospital and Research Centre Jeddah, Saudi Arabia 2Department of Paediatric Endocrinology, British Columbia Children Hospital Vancouver, Canada 3Department of Paediatrics, University of British Columbia, Consultant Paediatric Endocrinologist British Columbia Children Hospital Vancouver, Canada Journal of Endocrinology and Diabetes Open Access...
متن کاملHyperinsulinaemic hypoglycaemia in small for dates babies.
Blood glucose concentrations were measured prospectively in 27 small for dates infants in the first 48 hours after birth: 10 infants became hypoglycaemic. Of these, five had inappropriately raised plasma insulin concentrations. Plasma free fatty acids were lower and carbohydrate intake higher in these five infants, further supporting the diagnosis of hyperinsulinism. The hypoglycaemia recurred ...
متن کاملClinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age
OBJECTIVE To characterise the phenotype and genotype of neonates born small-for-gestational age (SGA; birth weight <10th centile) who developed hyperinsulinaemic hypoglycaemia (HH). METHODS Clinical information was prospectively collected on 27 SGA neonates with HH, followed by sequencing of KCNJ11 and ABCC8. RESULTS There was no correlation between the maximum glucose requirement and serum...
متن کاملSurgical treatment of hyperinsulinaemic hypoglycaemia in infancy and childhood.
Despite a greater awareness of hyperinsulinaemic hypoglycaemia, one in three patients has some degree of mental retardation by the time the diagnosis is made. The diagnosis is established by demonstrating high plasma insulin concentrations during an episode of hypoglycaemia. Twenty one hyperinsulinaemic infants and children were referred for surgical treatment after failing to respond to medica...
متن کاملHyperinsulinaemic hypoglycaemia in small for dates babies
Blood glucose concentrations were measured prospectively in 27 small for dates infants in the first 48 hours after birth: 10 infants became hypoglycaemic. Of these, five had inappropriately raised plasma insulin concentrations. Plasma free fatty acids were lower and carbohydrate intake higher in these five infants, further supporting the diagnosis of hyperinsulinism. The hypoglycaemia recurred ...
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عنوان ژورنال:
دوره 2017 شماره
صفحات -
تاریخ انتشار 2017