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 …

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco, C Saint‐Martin, K Brusgaard… - Human …, 2020 - Wiley Online Library
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic
variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP …

[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 …

Therapies and outcomes of congenital hyperinsulinism‐induced hypoglycaemia

I Banerjee, M Salomon‐Estebanez, P Shah… - Diabetic …, 2019 - Wiley Online Library
Congenital hyperinsulinism is a rare disease, but is the most frequent cause of persistent
and severe hypoglycaemia in early childhood. Hypoglycaemia caused by excessive and …

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus

MG Shaikh, AK Lucas-Herald, A Dastamani… - Frontiers in …, 2023 - frontiersin.org
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent
hypoglycaemia in infants and young children caused by inappropriate insulin over …

Hyperinsulinemic hypoglycemia in children and adolescents: recent advances in understanding of pathophysiology and management

M Gϋemes, SA Rahman, RR Kapoor… - Reviews in Endocrine …, 2020 - Springer
Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release,
leading to persistently low blood glucose concentrations with lack of alternative fuels, which …

[HTML][HTML] International guidelines for the diagnosis and management of hyperinsulinism

DD De Leon, JB Arnoux, I Banerjee, I Bergada… - Hormone Research in …, 2024 - karger.com
Background: Hyperinsulinism (HI) due to dysregulation of pancreatic beta-cell insulin
secretion is the most common and most severe cause of persistent hypoglycemia in infants …

Hyperinsulinaemic hypoglycaemia in children and adults

P Shah, SA Rahman, H Demirbilek… - The Lancet Diabetes & …, 2017 - thelancet.com
Pancreatic β cells are functionally programmed to release insulin in response to changes in
plasma glucose concentration. Insulin secretion is precisely regulated so that, under normal …

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers

A Welters, C Lerch, S Kummer, J Marquard… - Orphanet journal of rare …, 2015 - Springer
Background Up to now, only limited data on long-term medical treatment in congenital
hyperinsulinism (CHI) is available. Moreover, most of the drugs used in CHI are therefore not …

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 …