Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal–Perinatal Medicine Group

Jeffrey R. Kaiser, Shaili Amatya, Rebecca J. Burke, Tammy E. Corr, Nada Darwish, Chintan K. Gandhi, Adrienne Gasda, Kristen M. Glass, Mitchell J. Kresch, Sarah M. Mahdally, Maria T. McGarvey, Sara J. Mola, Yuanyi L. Murray, Katie Nissly, Nanyaly M. Santiago-Aponte, Jazmine C. Valencia, Timothy W. Palmer

Research output: Contribution to journalArticlepeer-review

Abstract

This perspective work by academic neonatal providers is written specifically for the audience of newborn care providers and neonatologists involved in neonatal hypoglycemia screening. Herein, we propose adding a screen for congenital hyperinsulinism (CHI) by measuring glucose and ketone (i.e., β-hydroxybutyrate (BOHB)) concentrations just prior to newborn hospital discharge and as close to 48 h after birth as possible, at the same time that the mandated state Newborn Dried Blood Spot Screen is obtained. In the proposed protocol, we do not recommend specific metabolite cutoffs, as our primary objective is to simply highlight the concept of screening for CHI in newborns to newborn caregivers. The premise for our proposed screen is based on the known effect of hyperinsulinism in suppressing ketogenesis, thereby limiting ketone production. We will briefly discuss genetic CHI, other forms of neonatal hypoglycemia, and their shared mechanisms; the mechanism of insulin regulation by functional pancreatic islet cell membrane KATP channels; adverse neurodevelopmental sequelae and brain injury due to missing or delaying the CHI diagnosis; the principles of a good screening test; how current neonatal hypoglycemia screening programs do not fulfill the criteria for being effective screening tests; and our proposed algorithm for screening for CHI in newborns.

Original languageEnglish (US)
Article number2953
JournalJournal of Clinical Medicine
Volume13
Issue number10
DOIs
StatePublished - May 2024

All Science Journal Classification (ASJC) codes

  • General Medicine

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