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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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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