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 …

The genetics of neonatal hyperinsulinism

JC Fournet, C Junien - Hormone research, 2003 - karger.com
Congenital hyperinsulinism (CHI) is the most important cause of persistent hypoglycaemia in
the neonate and infant. It is a clinically and genetically heterogeneous entity. The clinical …

Genetics of congenital hyperinsulinism

JC Fournet, C Junien - Endocrine pathology, 2004 - Springer
Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and
causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is …

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 …

Genetics of neonatal hyperinsulinism

B Glaser, P Thornton, T Otonkoski… - Archives of Disease in …, 2000 - fn.bmj.com
Congenital hyperinsulinism (HI) is a clinically and genetically heterogeneous entity. The
clinical heterogeneity is manifested by severity ranging from extremely severe, life …

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 …

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 …

Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations

M Suchi, C MacMullen, PS Thornton… - Pediatric and …, 2003 - journals.sagepub.com
The majority of the most severe cases of congenital hyperinsulinism (HI) are caused by
defects in the β-cell adenosine triphosphate (ATP)-sensitive potassium channel and usually …

[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 …

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 …