Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders

CA Stanley - The Journal of Clinical Endocrinology & …, 2016 - academic.oup.com
Context: Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in
children. The risk of permanent brain injury in infants with HI continues to be as high as 25 …

Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management

D Giri, K Hawton, S Senniappan - Journal of Pediatric Endocrinology …, 2022 - degruyter.com
Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin
release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe …

[PDF][PDF] Congenital hyperinsulinism: diagnosis and treatment update

H Demirbilek, K Hussain - Journal of clinical research in …, 2017 - jag.journalagent.com
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are
maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic …

[PDF][PDF] The diagnosis and management of hyperinsulinaemic hypoglycaemia

K Roženková, M Güemes, P Shah… - Journal of clinical …, 2015 - jag.journalagent.com
Insulin secretion from pancreatic β-cells is tightly regulated to keep fasting blood glucose
concentrations within the normal range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia …

Congenital hyperinsulinism: current trends in diagnosis and therapy

JB Arnoux, V Verkarre, C Saint-Martin… - Orphanet journal of rare …, 2011 - Springer
Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-
cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live …

Congenital hyperinsulinism

K Hussain - Seminars in Fetal and Neonatal Medicine, 2005 - Elsevier
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 …

[PDF][PDF] Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

Z Mohamed, VB Arya, K Hussain - Journal of clinical research …, 2012 - jag.journalagent.com
Hyperinsulinaemic hypoglycaemia (HH) is characterized by unregulated insulin secretion
from pancreatic β-cells. Untreated hypoglycaemia in infants can lead to seizures …

Congenital hyperinsulinism disorders: genetic and clinical characteristics

E Rosenfeld, A Ganguly… - American Journal of …, 2019 - Wiley Online Library
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in
infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to …

Congenital hyperinsulinism: current laboratory-based approaches to the genetic diagnosis of a heterogeneous disease

TI Hewat, MB Johnson, SE Flanagan - Frontiers in Endocrinology, 2022 - frontiersin.org
Congenital hyperinsulinism is characterised by the inappropriate release of insulin during
hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as …

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

KE Snider, S Becker, L Boyajian… - The Journal of …, 2013 - academic.oup.com
Context: Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9
genes. Objective: Our objective was to correlate genotype with phenotype in 417 children …