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Congenital Hyperinsulinism: An Historical Perspective
Hormone Research in Paediatrics, 2022Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in neonates, infants, and children. Since the first case descriptions in the 1950s, the field has advanced significantly. It was the development of the insulin radioimmunoassay by Yalow and Berson a decade later that made it possible to demonstrate that this form of ...
Paul S. Thornton +2 more
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Seminars in Fetal and Neonatal Medicine, 2005
Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the neonatal period. It is a heterogeneous disease with respect to clinical presentation, molecular biology, genetic aetiology and response to medical therapy. The clinical heterogeneity may range from severe life-threatening disease to very mild clinical symptoms.
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Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the neonatal period. It is a heterogeneous disease with respect to clinical presentation, molecular biology, genetic aetiology and response to medical therapy. The clinical heterogeneity may range from severe life-threatening disease to very mild clinical symptoms.
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New Tools for Congenital Hyperinsulinism
Clinical Pediatrics, 2021N ...
Da Lozzo, Prisca +8 more
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Insights in Congenital Hyperinsulinism
2007Congenital hyperinsulinism is characterized by the unregulated secretion of insulin from pancreatic Beta-cells. The inappropriate insulin secretion causes severe and persistent hypoglycaemia, which is a potent cause of brain damage if inappropriately managed.
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Ugeskrift for laeger, 2001
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium ...
H B, Christesen +2 more
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In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium ...
H B, Christesen +2 more
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A syndrome of congenital hyperinsulinism and hyperammonemia
The Journal of Pediatrics, 1997This report describes two patients from unrelated families with an unusual syndrome of hyperinsulinism plus hyperammonemia. The diagnosis of hyperinsulinism was based on the demonstration of fasting hypoglycemia with inappropriately elevated insulin levels, inappropriately low beta-hydroxybutyrate and free fatty acid levels, and inappropriately large ...
S A, Weinzimer +5 more
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Investigation and management of congenital hyperinsulinism
British Journal of Nursing, 2009Insulin is a powerful hormone produced by the beta-cells in the pancreas. Its major function is to regulate blood glucose levels, facilitating the transport of glucose into the body’s cells. Congenital hyperinsulinism is characterized by the presence of insulin that is inappropriately high for the concentration of blood glucose. Because high levels of
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Rare forms of congenital hyperinsulinism
Seminars in Pediatric Surgery, 2011Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4α) or UCP2 (encoding mitochondrial uncoupling protein 2 ...
Jan, Marquard +4 more
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Advances in Pharmacotherapy for Congenital Hyperinsulinism
Pediatric DrugsCongenital hyperinsulinism (CHI) is a rare disorder causing persistent hypoglycaemia in infants due to excessive insulin secretion from pancreatic β-cells. It has genetic causes, primarily mutations in ATP-sensitive potassium channel genes (ABCC8, KCNJ11). CHI manifests in three forms-focal, diffuse, and atypical-distinguished by histology and genetics,
Nuria González-Llorens +5 more
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