Abstract
The diagnostic evaluation of neonates and infants with persistent hypoglycemia requires a systematic approach to evaluate the integrity of the fuel and hormone responses during the development of fasting hypoglycemia. This is best accomplished by performing a closely monitored fasting test. The diagnosis of hyperinsulinism relies heavily on demonstrating inappropriate effects of insulin on fasting adaptation, i.e., inappropriate suppression of lipolysis and ketogenesis and inappropriate preservation of liver glycogen reserves as hypoglycemia develops. Once the diagnosis of hyperinsulinism has been established, evidence from the timing and the pattern of the hypoglycemia, the presence or absence of hyperammonemia, the response to substrate challenge tests (i.e., glucose and protein), and the results of genetic testing can specify the type of hyperinsulinism. This knowledge will allow one to implement the correct therapy and determine if the patient is a candidate for curative surgical approach such as is possible in focal KATP-HI and insulinomas.
Keywords
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Ferrara C, Patel P, Becker S, Stanley CA, Kelly A. Biomarkers of insulin for the diagnosis of hyperinsulinemic hypoglycemia in infants and children. J Pediatr. 2016;168:212–9.
Stanley CA, Baker L. Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics. 1976;57:702–11.
Finegold DN, Stanley CA, Baker L. Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr. 1980;96:257–9.
Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA. Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism hyperammonemia syndrome. J Pediatr. 2001;138(3):383–9.
Li C, Buettger C, Kwagh J, Matter A, Daikhin Y, Nissim IB, Collins HW, Yudkoff M, Stanley CA, Matschinsky FM. A signaling role of glutamine in insulin secretion. J Biol Chem. 2004;279(14):13393–401. Epub 2004 Jan 206.
Calabria AC, Gallagher PR, Simmons R, Blinman T, De Leon DD. Postoperative surveillance and detection of postprandial hypoglycemia after fundoplasty in children. J Pediatr. 2011;159:597–607.
Palladino AA, Sayed S, Levitt Katz LE, Gallagher PR, De Leon DD. Increased glucagon-like peptide-1 secretion and postprandial hypoglycemia in children after Nissen fundoplication. J Clin Endocrinol Metab. 2009;94:39–44.
Stanley CA, Thornton PS, Ganguly A, MacMullen C, Underwood P, Bhatia P, Steinkrauss L, Wanner L, Kaye R, Ruchelli E, Suchi M, Adzick NS. Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. J Pediatr. 2003;112:1005–15.
Kelly A, Ng D, Ferry RJ Jr, Grimberg A, Koo McCoy S, Thornton PS, Stanley CA. Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome. J Clin Endocrinol Metab. 2001;86(8):3724–8.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O’Rahilly S, Barroso I, Semple RK. An activating mutation of AKT2 and human hypoglycemia. Science. 2011;334(6055):474.
Uchigata Y, Eguchi Y, Takayama-Hasumi S, Omori Y. Insulin autoimmune syndrome (Hirata disease): clinical features and epidemiology in Japan. Diabetes Res Clin Pract. 1994;22(2–3):89–94.
Service FJ, McMahon MM, O’Brien P, Ballard D. Functioning insulinoma-incidence, recurrence, and long-term survival of patients: a 60-year study. Mayo Clin Proc. 1991;66:711–9.
Peranteau WH, Palladino AA, Bhatti TR, Becker SA, States LJ, Stanley CA, Scott Adzick N. The surgical management of insulinomas in children. J Pediatr Surg. 2013;48:2517–24.
Kitabchi AE. Proinsulin and C-peptide a review. Metab Clin Exp. 1977;26:547–87.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Thornton, P.S., Stanley, C.A. (2019). Approach to the Diagnosis of Neonates and Infants with Persistent Hypoglycemia. In: De León-Crutchlow, D., Stanley, C. (eds) Congenital Hyperinsulinism. Contemporary Endocrinology. Humana Press, Cham. https://doi.org/10.1007/978-3-030-02961-6_1
Download citation
DOI: https://doi.org/10.1007/978-3-030-02961-6_1
Published:
Publisher Name: Humana Press, Cham
Print ISBN: 978-3-030-02960-9
Online ISBN: 978-3-030-02961-6
eBook Packages: MedicineMedicine (R0)