Paediatric Aspects of Diabetes and Endocrinology Flashcards
Occurrence of T1DM in children?
A very common chronic disease in children
1/4 present with DKA
Stages in development of T1DM?
Patient has a genetic predispositions and a precipitating event causes overt immunologic abnormalities but the insulin release will remain normal
Progressive loss of insulin release starts to occur but glucose will still be normal
There will be a stage before the disappearance of C-peptide where it is normal
Symptoms of high BG in children?
Polyuria and polydipsia (nocturnal enuresis may be an issue)
Weight loss and general malaise are more vague in children (must ask about polyuria and polydipsia)
Other symptoms inc:
- Constipation
- Blurred vision
- Oral/vulval candida
Symptoms of ketosis/DKA?
Vomiting
Abdominal pain
Kussmaul’s breathing and “pear drop” smell
Drowsiness and altered consciousness
If severe or untreated, leads to coma and death
Diagnosis of T2DM?
Fasting blood glucose >7 mmol/L
Random blood glucose >11 mmol/L
Diagnosis of DKA?
pH <7.3 and urine ketone +++
Dehydration
Referral pathway for suspected T1DM in a child?
Random blood glucose in a child with DKA?
Usually markedly raised (>17 mmol/L)
Must be confirmed by taking a venous blood sample, as fingerprick testing can be inaccurate
Key differences in DKA management between children and adults?
In children, fluid resuscitation is based on weight; commence insulin 1 hour after IV fluid are started
There is a risk of cerebral oedema in children
Aims of T1DM management in children?
Normal growth and development; minimal effects on school attendance
Best achievable HbA1c for each patient:
- Target HbA1c <58 mmol/L
- In those with <1 year duration, aim for <48 mmol/L
Routine screening for microvascular disease:
- BP • Retinal screening
- Urine (albumin : creatinine ratio)
Avoidance of:
- Hypoglycaemic fit
- DKA episodes
Consequence poor T1DM control in children?
Social and emotional disruption
Sub-optimal physical growth
Micro-vascular disease
Early vascular disease changes in children with T1DM?
Microalbuminuria
CV autonomic neuropathy
Sensory nerve damage
Retinopathy
Cheiroarthropathy (cutaneous condition characterized by thickened skin and limited joint mobility of the hands and fingers, leading to flexion contractures)
Skin vascular changes
Vascular endothelial pathology
A 15 year old with T1DM has a BG = 10 mmol/l. They are going to eat a jacket potato for lunch (50g). Their carb ratio is 1:10 and insulin sensitivity is 1:2. The target GB is 6 mmol. Explain the definitions of the ratios. How many insulin units should they take?
Carb ratio of 1:10 means that 1 unit of insulin covers 10g of carbs
Insulin sensitivity of 1:2 means that 1 unit of insulin lowers their BG by 2 mmol/L
The answer is 7 units (5 units to cover their potato and 2 more units to lower their BG to the target)
Types of thyroid disease in the young?
Congenital OR acquired
Primary (problem with the thyroid gland), secondary (problem with TSH production from the pituitary gland) OR tertiary (rare but there is a problem with TRH production from the hypothalamus)
Types of primary congenital thyroid disease?
Dysplastic gland +/- abnormal site, e.g: sublingual
Inborn error of thyroid hormone metabolism
Types of secondary/tertiary congenital thyroid disease?
Congenital pituitary disease
Usually assoc. with hypopituitarism (GH, ACTH, Gonadotrophin deficiency)
Clinical symptoms of congenital thyroid disease?
Delayed jaundice
Poor feeding but “normal” weight gain
Hypotonia (umbilical hernia and constipation)
Skin and hair changes
The foetus is usually protected by placental thyroid hormone; absence of thyroxine for >3 months leads to permanent developmental delay (CRETINISM)
Screening for congenital thyroid disease?
Guthrie test on day 5
Take a capillary blood spot on to dry blotting paper; measurement of TSH and/or T4 levels
Causes of acquired thyroid disease in the young?
COULD BE DELAYED CONGENITAL DISEASE (rather than acquired)
Acquired causes:
- Post-infectious
- Autoimmune
- Iodine deficiency and nutrition
- Other autoimmune diseases, e.g: T1DM
Presentation of hypothyroidism in children?
Often has slow progression
Growth failure and delayed puberty
Poor general health and education difficulties
Goitre
Ix results in childhood hypothyroidism?
TFTs:
- High TSH
- Low fT4 and fT3
High thyroid cell Ab titres
Treatment of childhood hypothyroidism?
Life-long thyroxine replacement (dose related to size of the child)
Presentation of hyperthyroidism in children?
Rare but presents with general symptoms, e.g: behavioural problem, sleep disturbance
Goitre
High pulse rate
Precocious puberty
Ix results in childhood hyperthyroidism?
TFTs:
- Suppressed TSH
- High fT4 and fT3
High thyroid cell Ab titres
Treatment of childhood hyperthyroidism in children?
Initial therapy - β-blockade
Suppressant therapy:
- At least first 2 years - Carbimazole +/- thyroxine
- Permanent cure (radio-iodine, surgery)
Types of adrenal disease in the young?
Underactive:
- Primary
- Secondary
Overactive (Cushing’s disease/syndrome)
Causes of an underactive adrenal gland in childhood?
Primary:
- Adrenal hypoplasia (absent/dysplastic/destroyed)
- Inborn error of metabolism
- Congenital adrenal hyperplasia (CAH)
Secondary:
- Pituitary disease (congenital/acquired)
- Suppression secondary to high-dose and prolonged steroid therapy
Causes of an overactive adrenal gland in childhood?
High dose cortisol therapy
Cushing disease:
- Primary adrenal
- Secondary pituitary
Describe congenital adrenal hyperplasia (CAH)
Causes absent cortisol and aldosterone:
• Adissonian crisis with hyponatraemia, hyperkalaemia, hypotension
Causes virilisation (due to increased androgen production) which in:
- Females - causes ambiguous genitalia
- Males - causes precocious puberty
Treatment of an Addisonian crisis?
Urgent therapy with salt and cortisol
Pathogenesis of the most common type of CAH?
21-hydroxylase deficiency causes cortisol absence and thus high testosterone conversion, leading to foetal virilisation
Brief description of the development of the male and female genitalia?
In females, no MIS (Mullerian inhibiting substance) or androgens are produced so the Mullerian duct does not regress; AMH is not produced and their is differentiation and growth of fallopian tubes, uterus and upper 1/3rd of the vagina
In males, they produce AMH and so the Mullerian duct regress, leaving only the Wolffian duct, and their is growth of the seminal vesicles and vas deferens
Causes of ambiguous genitalia?
CAH or other steroid abnormalities
Gene and/or chromosomal abnormalities
Congenital defects
Assigning a gender to a patient?
A gender must be assigned at birth for legal purposes; however, the patient may wish to change this in the future
