Paediatric Endocrinology Flashcards
Type 1 diabetes mellitus - state the following:
- Pathophysiology
- Presentation
- Investigations
- Management
Pathophysiology:
- Autoimmune destruction of the insulin-producing beta cells in the islet of Langerhan
Presentation:
25-50% actually present in DKA
- Otherwise, have a triad of hyperglycaemic symptoms
1. Polydypsia
2. Polyuria
3. Weight loss
- Excessive tiredness
- Enuresis
- Recurrently infections
Investigations:
- Children with suspected type 1 diabetes should be referred to a paediatric diabetes team on the same day, to confirm diagnosis and provide immediate care
- If symptomatic, diagnosis confirmed by a single random blood glucose > 11.1mmol/L or above
Management:
- Children with suspected type 1 diabetes should be referred to a paediatric diabetes team on the same
- Ongoing insulin therapy (basal-bolus regime) and monitoring carbohydrate intake
- Regular monitoring of blood sugar levels
- Monitoring long term complications
Type 2 diabetes mellitus - state the following:
- Pathophysiology
- Risk factors
- Presentation (including any red flags)
- Investigations
- Management
Pathophysiology:
- Acquired insulin resistance, leading to chronic hyperglycaemia
Presentation:
- Triad of hyperglycaemic symptoms
1. Polydypsia
2. Polyuria
3. Weight loss
- Excessive tiredness
- Enuresis
- Recurrently infections
Investigations:
- Children with suspected type 2 diabetes should be referred to a paediatric diabetes team on the same day, to confirm diagnosis and provide immediate care
- Persistant hyperglycaemia (fasting plasma glucose > 7.0 mmol/L or random plasma glucose > 11.1 mmol/L) with symptoms of diabetes
Don’t use HbA1c to make a diagnosis of T2DM in children
Management:
- Lifestyle advice e.g. weight loss, increased exercise, improved diet
- Metformin (+ insulin if needed)
- Monitoring long term complications
Diabetic ketoacidosis - state the following:
- Pathophysiology
- Presentation
- Investigations
- Management
Pathophysiology:
- Ketogenesis occurs when there is insufficient glucose available to the cells
- Increased ketones causes a metabolic acidosis
Presentation:
- Polydypsia
- Polyuria
- Weight loss
- N&V
- Acetone breath
- Hypotension from dehydration
- Altered consciousness
- May have obvious underlying trigger e.g. sepsis
Investigations:
Triad of features should be present
1. Acidosis:
2. Ketonaemia
3. Hyperglycaemia
Management:
- Correct dehydration slowly with IV fluids (helps dilute hyperglycaemia and ketones)
- Fixed insulin rate insulin infusion
- Monitor glucose, ketones, pH and potassium levels
- Monitor for signs of cerebral oedema e.g. headaches, bradycardia
Outline how cerebral oedema (secondary to aggressive fluid resuscitation in DKA) is managed
- Reducing rate of IV fluids being given
- IV Mannitol
- IV hypertonic saline
What are the 3 main complications of diabetic ketoacidosis in children
- Hypokalaemia
- Aspiration pneumonia
- Cerebral oedema (aggressive fluid resuscitation)
State some risk factors for children developing obesity
Non-modifiable:
- Black or Hispanic ethnicity
- Intrauterine growth restriction
- Maternal gestational diabetes
Modifiable:
- Parents who are obese
- Poor socioeconomic status
- Sedentary lifestyle
- Rapid weight gain in infancy / early childhood
Growth hormone deficiency - state the following:
- Pathophysiology
- Presentation
- Investigations
- Management
Pathophysiology:
- Reduced production of growth hormone from the anterior pituitary
- Therefore less IGF-1 is produced (responsible for growth of organs, bones, muscles and height overall)
Presentation:
- Poor growth (slowing from 2-3 years)
- Short stature
- Slow development
- Hypoglycamia
- Micropenis (males)
- Delayed puberty
- Severe jaundice
Investigations:
- Growth hormone stimulation tests
- May look for underlying cause e.g. MRI brain for pituitary or hypothalamus abnormalities
Management:
- Daily subcut injections of growth hormone e.g. Somatropin
- Ongoing monitoring of height and development
State the 2 types of hypothyroidism in paediatrics
- Congenital
- Acquired
Congenital hypothyroidism - state the following:
- Pathophysiology
- Presentation
- Management
Baby born with an under-active thyroid
2 main causes of low thyroid:
1. Underdeveloped thyroid gland (dysgenesis)
2. Malfunctioning fully developed thyroid gland (dyshormonogenesis)
Picked up on the newborn blood spot screening test
If not picked up on screening test, presenting features:
- Slow growth and development
- Neonatal jaundice
- Low energy/activity levels
- Increased sleepiness
- Constipation
- Poor feeding
Management:
- Daily oral Levothyroxine
- Regular follow up with paediatric endocrinologist (TFTs, thyroid ultrasounds and thyroid antibodies)
Acquired hypothyroidism - state the following:
- Pathophysiology
- Presentation
- Management
Child develops an under-active thyroid gland, which was previously functioning normally
Causes of acquired hypothyroidism:
- Hashimoto’s thyroiditis (most common)
- Radiation
- Surgery
- Damaged pituitary gland
Presentation:
- Constipation
- Dry hair / skin
- Weight gain
- Fatigue / low energy
- Poor growth
- Poor school performance
Management:
- Daily oral Levothyroxine
- Regular follow up with paediatric endocrinologist (TFTs, thyroid ultrasounds and thyroid antibodies)
Rickets - state the following:
- Pathophysiology
- Presentation
- Investigations
- Management
Pathophysiology:
- Insufficient mineralisation at the growth plate of long bones
- If left untreated, bone deformity with bowed legs and thickening of the ends of long bones
Presentation:
- Bony deformity / bowed legs
- Growth retardation
- Bone pain
- Delayed achievement of motor milestones
Investigations:
- X-rays of long bones
- Bloods for calcium, phosphorus, PTH,
Management:
- Calcium and vitamin D supplementation
Diabetes insipidus - state the following:
- Pathophysiology
- Presentation
- Investigations
- Management
Pathophysiology:
- Disturbance in water balance, with voiding of large volumes of dilute urine and unquenchable thirst
- Either nephrogenic (more common in children, often acquired) or central
- Acquired nephrogenic cause is essentially due to drugs e.g. Lithium, Clozapine, Rifampin
Presentation:
- Polydypsia
- Polyuria
- Unquenchable thirst
- Failure to thrive
- Disturbed sleep
- Irritability
Investigations:
- Water deprivation test
- MRI pituitary if suspecting central cause
Management:
- Providing free access to water
- Dietary management to optimize free water excretion
- Desmopressin (if central)
- Drugs to enhance water reabsorption (if nephrogenic)
- Treatment of any underlying cause
State some risk factors for children in terms of developing vitamin D deficiency
- Poor sun exposure
- Darker skin pigmentation
- Obesity
- Exclusively breastfed babies / older than 6 months of with less than 0.5L of formula milk a day
- Malabsorption disorder, severe liver or end-stage CKD
- Medications limiting vitamin D absorption
State 3 complications of vitamin D deficiency
- Rickets / bony malformations
- Osteomalacia in adulthood
- Hypocalcaemia
State the investigation for children with suspected vitamin D deficiency and management
Investigation:
- Serum 25[OH]D level (vitamin D)
Management:
- Advise on safe sunlight exposure
- Advise on dietary sources of vitamin D, including assessment of current vitamin D intake
- Fixed loading dose of vitamin D, then maintenance dose
- Follow up to reassess serum vitamin D levels and bone profile
- Refer to specialist if clinical features of rickets or other complications causing low vitamin D e.g. renal disease
