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Congenital Hyperinsulinism (CHI)

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Advanced Practice in Endocrinology Nursing

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Abstract

The aim of this chapter is to highlight a rare endocrine condition (Congenital Hyperinsulinism, CHI), which can cause low blood glucose levels leading to permanent brain injury. Many Paediatric Nurses are unfamiliar with this condition. CHI is caused by unregulated insulin secretion from the pancreas and typically presents in the newborn period, but it can also present later in life. It is imperative for Paediatric Nurses to be knowledgeable on the subject of CHI as they are usually the first to identify the infant’s low blood glucose levels, often accompanied by non-specific symptoms such as floppiness, jitteriness, fitting, lethargy, or poor feeding. It is always important to consider CHI if an infant or child presents with unexplained recurrent and persistent hypoglycaemia.

The chapter will focus on understanding how to interpret blood glucose levels, explain the biochemical basis of CHI, provide some background to the genetic causes of CHI, discuss the signs and symptoms of hypoglycaemia and finally, offer guidance for the diagnosis and management of patients with CHI. A case study will be used to illustrate the importance of early identification and prompt treatment.

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Abbreviations

18F-DOPA:

Fluorine-18-l-dihydroxyphenylalanine

A&E:

Accident and Emergency

ABCC8:

ATP Binding Cassette Subfamily C Member 8

ADP:

Adenosine diphosphate

ATP:

Mitochondrial adenosine triphosphate

b-HOB:

Beta-hydroxybutyrate

CHI:

Congenital hyperinsulinism

CNS:

Clinical Nurse Specialist

CRP:

C-reactive protein

EEG:

Electroencephalogram

GA:

General anaesthetic

GCK:

Glu-cokinase

GH:

Growth hormone

GLUD1:

Glutamate dehydrogenase

G.P:

General Practitioner

HADH:

Hydroxyacyl-coenzyme A dehydrogenase

HNF1A:

Hepatocyte nuclear factor 1A

HNF4A:

Hepatocyte nuclear factor 4A

KATP:

Mitochondrial adenosine triphosphate-sensitive potassium

KCNJ11:

Potassium Voltage-Gated Channel Subfamily J Member 11

Kgs:

Kilograms

Kir6.2:

Inward rectifying potassium channel

mg/kg/day:

Milligram per kilogram per day

mg/kg/min:

Milligram per kilogram per minute

mL/kg:

Millilitre per kilogram

mLs/kg/day:

Millilitres per kilogram per day

mm:

Millimetre

mmols/L:

Millimoles per Litre

MODY:

Maturity onset diabetes of the young

MRI:

Magnetic resonance imaging

mTOR:

Mechanistic target of rapamycin

mU/L:

Milliunits per Litre

NEFA:

Non-esterified fatty acids

NHS:

National Health Service

nmol/L:

Nanomole per litre

PES:

Pediatric Endocrine Society

PET:

Positron emission tomography

pmol/L:

Picomoles per litre

SLC16A1:

Solute Carrier Family 16 Member 1

SLE:

Systemic lupus erythematosus

SUR 1:

Sulfonylurea receptor

μg/L:

Micrograms per litre

μmol/L:

Micromole per litre

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Acknowledgements

Beki Moult - Health Information & Language Manager, Great Ormond Street for Children Hospital, Foundation Trust, London, UK. Dr Maria Guemes—Clinical Fellow—Hyperinsulinism, Great Ormond Street for Children Hospital, Foundation Trust, London, UK. Nabilah Begum—Hyperinsulinism Service Coordinator, Great Ormond Street for Children hospital, Foundation Trust, London UK. Dr Pratik Shah—Locum Consultant in Paediatric Endocrinology and Honorary Clinical Lecturer, Great Ormond Street Hospital for Children and UCL Great Ormond Street Institute of Child Health, London. Dr Ved Bhushan Arya MD PhD—Endocrine Registrar, Great Ormond Street for Children Hospital, Foundation Trust, London, UK.

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Authors and Affiliations

  1. Great Ormond Street Hospital for Children NHS Trust, London, UK

    Claire Gilbert, Kate Morgan & Louise Doodson

  2. Weill Cornell Medicine-Qatar, Ar-Rayyan, Qatar

    Khalid Hussain

  3. Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, OPC, Doha, Qatar

    Khalid Hussain

Authors
  1. Claire Gilbert
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  2. Kate Morgan
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  3. Louise Doodson
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  4. Khalid Hussain
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Corresponding author

Correspondence to Claire Gilbert .

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Editors and Affiliations

  1. School of Health Sciences, City, University of London, London, UK

    Sofia Llahana

  2. Department of Oncology, Skåne University Hospital, Lund, Sweden

    Cecilia Follin

  3. Northwest Pituitary Center Oregon Health and Sciences University, Portland, OR, USA

    Christine Yedinak

  4. Churchill Hospital, University of Oxford, Oxford, UK

    Ashley Grossman

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Gilbert, C., Morgan, K., Doodson, L., Hussain, K. (2019). Congenital Hyperinsulinism (CHI). In: Llahana, S., Follin, C., Yedinak, C., Grossman, A. (eds) Advanced Practice in Endocrinology Nursing. Springer, Cham. https://doi.org/10.1007/978-3-319-99817-6_8

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  • DOI: https://doi.org/10.1007/978-3-319-99817-6_8

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