Endocrine Flashcards
What are the signs & symptoms of type 1 DM?
5-7yrs & pre-puberty Symptoms over a period of weeks Polyuria Polydipsia Nocturia/enuresis Weight loss Infections (Candida)
How is type 1 DM investigated?
Random glucose: >11.1
Urine dip
Bloods: U&Es, autoantibodies
Blood pH: Exclude DKA
What is the pathophysiology of T1DM?
Autoimmune disorder
T-Cell mediated destruction & progressive loss of pancreatic beta cells
Insulin deficiency & hyperglycaemia
How is T1DM managed?
Insulin
Child: 0.5-1u/kg/day
Adolescent: 1-2u/kg/day
Annual flu vaccine
Retinal checks
What are the blood sugar targets for a child with T1DM?
HbA1c: 48mmol/mol measured 4times a year
Weight & growth measured at the same time
What are the different insulin regimes available?
2 dose:Short acting & intermediate acting
3 dose:Short acting & intermediate at breakfast, short at evening meal, intermediate at bedtime
Basal bolus: Bedtime long-acting bolus, fast acting w/every meal
Continuous subcut infusion: Short acting
What are the advantages of each type of insulin regimen?
2 dose: Simple
3dose: Reduced frequency of nocturnal hypoG
Bolus: Mimics physiological secretion, flexibility w/meals & exercise, insulin dose adjustment
Infusion: Red frequency of hypoG, flexibility w/meals & exercise, insulin dose adjustment, no bolus
What are the disadvantages of each type of insulin regimen?
2does: Mix insulins, peak action not correspond with meal times, hypoG so between meal snacks
Bolus: More injections, more frequent BM monitoring
Infusion: No long acting insulin, interruption- risk of DKA, greater management expertise, more frequent BM monitoring
What are the complications of impaired sugars in T1DM?
HypoG: <3.5, hunger, pallor, sweating, dizziness Tx: Oral glucose
Unwell: Insulin requirements change (25-30%)
DKA: Dehydration, hyperglycaemia, ketones
Long-term: Microalbuminaemia, retinopathy
What are the long-term complications of T1DM?
Microvascular: Retinopathy, diabetic nephropathy, peripheral & autonomic neuropathy
Macrovascular: HTN, Coronary heart disease
Almost never seen in children
What autoimmune conditions are children with T1DM at risk of?
Autoimmune thyroiditis
Coeliac disease
Adrenal insufficiency
All screened for annually
What are the RFs for T2DM?
Obesity FHx PCOS SGA Ethnicity: Asian, Afro-carribbean
How is T2DM investigated?
Presence of risk factors Absence of pancreatic autoAb Lack of absolute/persistent insulin deficiency Random plasma glucose >11 Evidence of insulin resistance
How is T2DM managed?
Mild: Lifestyle intervention
Drugs: 200-500mg/day Metformin
Long-acting Insulin
What are the causes of hypothyroidism?
Congenital: Thyroid dygenesis, Iodine deficiency
Acquired: RT/Surgery, Intracranial tumours, medications, iodine deficiency
What are the signs & symptoms of hypothyroidism?
Congenital: Umbilical hernia, Jaundice, Constipation, Hypotonia, Hoarse cry, Dry skin, Poor feeding
Acquired: Goitre, Weight gain, Delayed growth & skeletal maturation, Dry coarse skin, Mental slowness
How is hypothyroidism investigated?
Congenital: Guthrie heel prick test, Bloods: High TSH, Low T4
Acquired: Bloods: High TSH, Low T3/T4, autoimmune- Thyroid antibody screen
How is hypothyroidism managed?
Congenital & Acquired: Levothyroxine
Congenital: Monthly T4, TSH levels
Acquired: 4-6monthly TFTs
What are the complications of hypothyroidism?
Short stature
Poor motor coordination
Ataxia
What is Phenylketonuria?
Inborn error of amino acid metabolism due to absence of phenylalanine hydroxylase enzyme
Converts Phenylalanine to Tyrosine
Important in formation of catecholamines, melanin & neurotransmitters
Autosomal Recessive
What are the signs & symptoms of Phenylketonuria?
Developmental delay Progressive mental retardation Seizures Fair hair Light blue eyes Vomiting Musty odour Derm abnormalities Self-mutillation
How is Phenylketonuria investigated?
Heel Prick
Aminoaciduria
MRI
Genetic testing
How is Phenylketonuria managed?
Protein restriction
Weekly: Biochem monitoring till school age then 2weekly
Adolescents: Monthly
What are the complications of Phenylketonuria?
High plasma levels of Phenylalanine
Formation of phenylpyruvic acid & phenylethylamine
Neurotoxic- learning disabilities & seizures by 6-12m
What are the specific signs of different vitamin deficiencies?
Night Blindness: Vit A Rickets: Vit D Bleeding: Vit K Beri Beri & Wernickes: Vit B1 Scurvy: Vit C
What are the causes of Rickets?
Vit D deficiency: Dark skin, Sun-cream
Defect in Vit D: CKD, enzyme deficiency, anti-epileptics metabolism/action
Phosphate deficiency
Calcium deficiency
What are the signs & symptoms of Rickets?
Frontal bossing wide sutures Craniotabes Rachitic rosary Harrison's sulcus (chest in under rib cage) Skeletal deformities- Bowing of legs Growth delay/arrest Bone pain/fractures Muscle weakness
How is Rickets investigated?
25-Hydroxyvitamin D <25
Bone Profile: Ca, PO4, LFTs-ALP
X-ray: Osteopenia, cupping of distal ends of bones
How is Rickets treated?
Colecalciferol 50000u/week for 6weeks then maintenance dose
1,25 Dihydroxy Vit D3 replacement therapy
For 8-12weeks
6m: 3000u
<12yr: 6000u
>12: 10000u
What are the signs & symptoms of DKA in a child?
Signs associated w/Diabetes: Polydispia, polyuria, lethargy, weight loss
Signs associated w/ketoacidosis: Abdo pain, N&V, laboured breathing
What are the causes of DKA?
Often triggered by an acute infection e.g pharyngitis
Why is laboured breathing seen in DKA?
Body trying to compensate for the acidosis by blowing off excess CO2.
