Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia
- 9 June 2017
- journal article
- research article
- Published by Hindawi Limited in Pediatric Diabetes
- Vol. 19 (2), 259-264
- https://doi.org/10.1111/pedi.12548
Abstract
To define the ranges of biochemical markers during hypoglycemia for the diagnosis of congenital hyperinsulinism (CHI), using high sensitivity insulin assays. A total of 298 patients with CHI and 58 control patients with non-hyperinsulinemic hypoglycemia, who were diagnosed after 2007. The levels of biochemical markers (glucose, insulin, β-hydroxybutyrate [BHB], free fatty acids [FFA], lactate, ammonia) at the time of hypoglycemia were analyzed along with the maximal glucose infusion rate (GIR) to maintain euglycemia and clinical outcomes. Median levels of blood glucose in patients with CHI and in controls were 30 and 46 mg/dL, while insulin levels were 9.90 and undetectable (<.5) μU/mL, respectively. Similarly, median levels of BHB were 17.5 and 3745 µmol/L, and those of FFA were 270.5 and 2660 µmol/L, respectively. For patients after 5 months, cutoffs of insulin >1.25 μU/mL, BHB < 2000 µmol/L, and FFA < 1248 µmol/L predicted CHI with sensitivities of 97.5, 96.2, and 95.2% and specificities of 84.2, 89.3, and 92.3%, respectively. Maximal GIR in the CHI groups tended to decrease with age. In addition, decreased gestational age, low birth weight, and elevated lactate at hypoglycemia were significantly more common in patients who were off treatment within 100 days without pancreatectomy. After introduction of high-sensitive assays, the diagnostic value of insulin was improved, allowing for more efficient cutoffs to be set for diagnosis of CHI. Premature birth, low birth weight and elevated lactate might be helpful in predicting early remission of hypoglycemia.Keywords
Funding Information
- Ministry of Health, Labour, and Welfare of Japan (Research on Measures for Intractable Diseases) (2013-070, 2016-021)
- Japan Agency for Medical Research and Development (16lk0201035h0002)
This publication has 28 references indexed in Scilit:
- Congenital hyperinsulinism: current trends in diagnosis and therapyOrphanet Journal of Rare Diseases, 2011
- Metabolic Profiles in Children During FastingPEDIATRICS, 2011
- Hyperinsulinism in Infancy and Childhood: When an Insulin Level Is Not Always EnoughClinical Chemistry, 2008
- Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of InfancyHormone Research in Paediatrics, 2007
- Assessment of Suspected Insulinoma by 48-hour Fasting Test: A Retrospective Monocentric Study of 23 CasesHormone and Metabolic Research, 2007
- Insulin, C-peptide and proinsulin for the biochemical diagnosis of hypoglycaemia related to endogenous hyperinsulinismActa Endocrinologica, 2007
- Childhood hypoglycemia in an urban emergency departmentPediatric Emergency Care, 1998
- Quantitation of Hepatic Glycogenolysis And Gluconeogenesis in Fasting Humans With 13 C NMRScience, 1991
- HYPERINSULINISM IN ASPHYXIATED AND SMALL-FOR-DATES INFANTS WITH HYPOGLYCAEMIAThe Lancet, 1984
- Hyperammonemia in Hypoglycemic Preterm NeonatesNeonatology, 1983