Endocrine and metabolic disorders Flashcards
What are some triggers for T1DM?
Enteroviral infections (accounting for more frequent diagnoses in spring and autumn), and diet (possibly cows milk proteins) and overnutrition
What are some markers of pancreatic beta cell destruction?
Islet cell antibodies and antibodies to glutamic acid decarboxylase (GAD), the islet cells and insulin.
What other disease is T1DM associated with?
Other autoimmune diseases such as hyperthyroidism, Addison disease, coeliac disease and RA.
When does T1DM present?
There are two peaks of presentation, preschool and teenagers. It is commoner to present in spring or autumn
How do children often present with T1DM?
Only a few weeks of polyuria, excessive thirst and weight loss; young children may develop secondary nocturnal enuresis.
What are the symptoms of DKA in children?
Acetone breath Vomiting Dehydration Abdo pain Kussmal breathing Hypovolaemic shock Drowsiness Coma and death
What is diabetic blood glucose (random and fasting) in children?
Random - >11.1mmol/L
Fasting - >7mmol/L
How do you diagnose DM?
Raised glucose
Glycosuria
Ketonuria
Raised HbA1c
What does the diabetes educational programme involve for newly diagnosed children?
Understanding pathophysiology
Injection of insulin: technique and sites
Diet: reduce refined carbs - carb counting
Adjustments of diet and insulin for exercise
‘Sick-day rules’ to prevent DKA
Blood glucose monitoring
Hypoglycaemia recognition
Where to get help
What are the different types of insulin?
Human insulin analogues - rapid-acting analogues (faster onset and shorter duration than soluble regular insulin) and very long-acting analogues.
Short acting soluble human regular insulin
Intermediate acting insulin
What are the time frames of short acting soluble human regular insulin?
Onset - 30-60 minutes
Peak - 2-4 hours
Duration - up to 8 hours
Given 15-30 minutes before meals
What are the time frames of intermediate acting soluble human regular insulin?
Onset - 1-2 hours
Peak - 4-12 hours
How can insulin be given?
Continuous infusion of rapid-acting insulin from a pump
Injections
Pen-like devices with insulin-containing cartridges
Jet injectors that inject insulin needle-free as a fine stream into the subcutaneous tissue
Where can insulin be injected?
Upper arm, the anterior and lateral aspect of the thigh, the buttocks and the abdomen
How is insulin fitted into a normal day?
An insulin pump or 3-4 times/day injection regimen with short acting insulin being given before each meal and snack plus long-acting insulin in the late evening and/or before breakfast to provide insulin background
What is the ‘honeymoon period’ of diabetes diagnosis?
Shortly after presentation, when some pancreatic function is preserved, insulin requirements often become minimal.
What nutrition is recommended?
A healthy diet with high complex carbohydrate and fibre and relatively low fat content
What blood glucose levels are you aiming to maintain?
4-6mmol/L
When would you monitor blood ketones?
It is mandatory during infection or the control is poor to try to avoid severe ketoacidosis
What sort of things increase blood glucose levels?
Omission of insulin Food (esp. refined carbs) Illness Menstruation (shortly before onset) GH Corticosteroids Sex hormones at puberty Stress of an operation
What sort of things decrease blood glucose levels?
Insulin Exercise Alcohol Some drugs Marked anxiety/excitement
What disease can affect HbA1c levels?
Sickle cell or thalassaemia
What do you want the HbA1c levels to be?
<58mmol/mol
Below what blood glucose would hypo symptoms normally start?
4mmol/L
What are the symptoms of hypos?
Highly individual and change with age.
Hungry, tummy ache, sweatiness, feeling faint or dizzy or wobbly legs.
May progress to seizures and come
How do you treat hypos?
Sugary drink
Oral glucose gel (glucogel)
Glucagon injection kit
What are the aims on long-term management of diabetes?
Normal growth and development
Normal home and school life
Good diabetic control through knowledge and good technique
Encouraging children to become self-reliant
Avoid hypos
Prevent long-term complications
What are the essential early investigations in DKA?
Blood glucose
Blood ketones
U&Es, creatinine (dehydration)
Blood gas (severe metabolic acidosis)
Urinary glucose and ketones (both present)
Evidence of a precipitating cause (infection)
Cardiac monitoring for T wave changes of hypokalaemia
Weight
How do you manage DKA?
Fluids (slowly to avoid cerebral oedema)
Insulin (after 1h, monitor regularly, do NOT give bolus)
Potassium (replacement as soon as urine is passed)
Acidosis (avoid bicarbonate)
Do NOT stop IV insulin until 1h after subcutaneous insulin
Identify and treat underlying cause
What jobs are you not allowed to do with diabetes?
Pilot
Heavy goods driver
Public service vehicle driver
What are the long term complications of diabetes?
Growth and pubertal developmental delay Blood pressure Renal disease Eyes Feet
What are the signs of hypo (non-diabetic) in neonates?
Sweating
Pallor
CNS signs of irritability, headache, seizures and coma
What are the neurological sequelae if hypoglycaemia persists?
Epilepsy
Severe learning difficulties
Microcephaly
What tests should you perform when hypoglycaemia is present?
Blood glucose
GH, IGF-1, cortisol, insulin, C-peptide, fatty acids, ketones, glycerol, lactate, pyruvate
Urinalysis
What are the causes of congenital hypothyroidism?
Maldescent of the thyroid and athyrosis
Dyshormonogenesis
Iodine deficiency
What are the clinical features of congenital hypothyroidism?
Failure to thrive Feeding problems Prolonged jaundice Constipation Pale, cold, mottled dry skin Coarse facies Large tongue Hoarse cry Goitre Umbilical hernia Delayed development
If hypothyroid is picked up on the Guthrie test (high TSH), when is treatment started?
At 2-3 weeks of age
How do you treat congenital hypothyroidism?
Lifelong oral replacement of thyroxine, titrating the dose to maintain normal growth, TSH and T4 levels
What diseases increase the risk of juvenile hypothyroidism?
Down or Turner syndrome
What is the main cause of hyperthyroidism?
Graves disease (autoimmune hyperthyroidism)
In what age group and gender is hyperthyroidism seen most commonly?
Teenage girls
How do you treat hyperthyroidism?
Carbimazole or propylthiouracil for about 2 years.
A second drug course or surgery may then be given if relapsed.
Radioiodine treatment.
What are the side effects of anti-thyroid medication?
There is a risk of neutropenia so all families should seek urgent help and a blood count if sore throat and fever occur on starting treatment
Summary of phenylketonuria?
Deficiency of the enzyme phenylalanine hydroxylase.
Untreated, causes developmental delay around 6-12 months old.
Treatment is restriction of dietary phenylalanine, with regular blood monitoring
