Recent advances in hyperinsulinemic hypoglycemia of infancy.

Acta Paediatr

Children's Hospital of Pittsburgh, Division of Endocrinology, Pittsburgh, PA 15213, USA.

Published: October 2006

Unlabelled: Hyperinsulinemia-induced hypoglycemia is the most common cause of persistent hypoglycemia in adults, children, and infants. Our understanding of the disorders responsible for this type of hypoglycemia has been increasing due to the recent discoveries in the molecular and biochemical regulation of insulin secretion. In this article, we review the current knowledge of the pathophysiology, clinical presentation, and diagnosis of disorders that cause hyperinsulinemic hypoglycemia of infancy. We highlight the distinction between the diffuse and focal forms of the disease, especially the promising results with (18)F-L-dopa positive emission tomography (PET) scanning for preoperative localization and distinction to guide the extent of surgical removal of pancreatic tissue that may result in cure rather than persistence of disturbed carbohydrate metabolism.

Conclusion: Despite all these discoveries, much remains to be learned, as currently about one third of infants with hyperinsulinemic hypoglycemia have no identifiable cause.

Download full-text PDF

Source
http://dx.doi.org/10.1080/08035250600640414DOI Listing

Publication Analysis

Top Keywords

hyperinsulinemic hypoglycemia
12
hypoglycemia infancy
8
hypoglycemia
6
advances hyperinsulinemic
4
infancy unlabelled
4
unlabelled hyperinsulinemia-induced
4
hyperinsulinemia-induced hypoglycemia
4
hypoglycemia common
4
common persistent
4
persistent hypoglycemia
4

Similar Publications

Introduction: Metabolic responses to glucagon beyond the promotion of endogenous glucose production in type 1 diabetes remains poorly explored. Therefore, we aimed to investigate the metabolic responses to glucagon stimulation in type 1 diabetes and explore whether recent exposure to hypoglycemia would impact glucagon sensitivity.

Research Design And Methods: Twenty-nine participants, 19 with type 1 diabetes and ten healthy controls, underwent a hyperinsulinemic-euglycemic clamp with five-stepwise ascending glucagon injections.

View Article and Find Full Text PDF

Background: Our goal was to determine in healthy individuals and individuals with type 2 diabetes the impact of repeated episodes of hypoglycemia on the corrected QT (QTc) interval and the time course for QTc recovery. Further, since hypoglycemia increases aldosterone and patients with primary aldosteronism have prolonged QTc, we also determined whether mineralocorticoid receptor blockade prevents hypoglycemia-induced QTc alterations.

Methods: Twenty-seven healthy participants completed a double-blinded crossover trial contrasting 3 experimental conditions: 1) euglycemia, 2) hypoglycemia, and 3) hypoglycemia with mineralocorticoid receptor blockade pretreatment.

View Article and Find Full Text PDF

Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1.

Horm Res Paediatr

January 2025

Division of Endocrinology and Diabetes, Congenital Hyperinsulinism Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Introduction: This is a report of a child with congenital hyperinsulinism associated with a loss-of-function variant in KCNE1. KCNE1 encodes a human potassium channel accessory (beta) subunit that modulates potassium channel Kv7.1 (encoded by KCNQ1).

View Article and Find Full Text PDF

Wieacker-Wolff syndrome (WRWF) is an X-linked genetic disorder characterized by neuromusculoskeletal abnormalities caused by loss-of-function variants of the gene. Here, we report the case of a male infant with WRWF manifesting as multiple joint contractures and congenital anomalies at birth. He underwent gastrostomy to treat the gastroesophageal reflux disease, which caused mixed apnea and transient bradycardia.

View Article and Find Full Text PDF

The ATP-binding cassette transporter subfamily C member 8 (ABCC8) regulates insulin secretion from β-cells. Loss- and gain-of-function variants of have been implicated in neonatal hyperinsulinemic hypoglycemia and young-onset diabetes, respectively. Although some patients with variants have been reported to exhibit both neonatal hypoglycemia and young-onset diabetes, the molecular and clinical characteristics of this atypical phenotype remain unknown.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!