Endocrinology Flashcards
(117 cards)
Genetic Syndromes of hypokalaemia
Barters, Gitelman, Liddles
Which genetic syndrome of hypokalaemia is associated with High Blood Pressure
Liddles - rare autosomal dominant, gain-of-function mutation in ENaC leads to hereditary hypokalemia and hypertension, mimicking the syndrome of mineralocorticoid excess.
Which genetic syndrome of hypokalaemia mimics the action of loop diuretics?
Barter Syndrome
Which genetic causes of hypokalaemia lead to a metabolic alkalosis
Barter and Gitelman Syndrome
Features of Primary Hyperaldonstoeronism (Conn’s Syndrome)
Triad of Hypertension, Hypokalaemia and Metabolic Alkalosis. Excess Hyperaldosterone –> Excess excretion of Potassium (Sodium potassium exchanger in the distal convoluted tubule), metabolic alkalosis and hypertension.
Diagnosis in suspected Primary Hyperaldosteronism
Plasma Aldosterone Concentration/Plasma Renin Concentration. If significantly elevated ratio then tends to suggest Primary Aldosteronism
What are the four factors that increase the likelihood of underlying osteomyelitis in the context of ulcers
1) Grossly visible bone or ability to probe to bone
2) Ulcer size >2cm squared
3) Ulcer duration longer that one to two weeks
4) ESR >70
Which finding is specific for Grave’s Disease
Pre-tibial Myxodema
Best investigations for Grave’s Disease
1) Thyroid Antibodies - TSH receptor antibody
2) Tc 99 scan where there will be symmetrical homogenous uptake
Three treatment modalities for Graves Disease
1) Thionamides: Carbimazole/PTU
2) Radioactive Iodine
3) Thyroidectomy
Side effects of Thionamides
Itch Rash Agranulocytosis (Neutropenia) Hepatotoxicity pANCA vasculitis
Which Thionamide should be used in the first trimester of pregnancy
PTU
Which thionamide should be used after the first trimester of pregnancy
Carbimazole
Addison’s Disease metabolic changes
Reduced production of mineralocorticoid therefore hyperkalaemia, hyponatraemia and hypoglycaemia
Maintenance therapy in primary adrenal insufficiency
Glucocorticoids: Can use Hydrocort 15-25 (10mg/m squared) BD/TDS dosing or prednisone 3-5mg
Mineralocorticoid: Fludrocortisone: 100 units per day
Cardinal Features of Autoimmune Polyglandular Syndrome Type 1
Occurs in children, Addison’s disease associated with mucocutaneous candidiasis and hypoparathyroidism. Autosomal Recessive
Cardinal Features of Autoimmune Polyglandular Syndrome Type 2
Addison’s Disease
Type 1 diabetes
Thyroid Disease
Gold standard test for Primary Adrenal Insufficiency
Insulin Tolerance Test
Investigation of Primary Adrenal Insufficiency
Morning cortisol
Short Synacthen Test
Insulin Tolerance Test
Most common deficiency if Congenital Adrenal Hyperplasia
21 hydroxylase which leads to an increase in 17 hydroxylase (the precursor)
When should you investigate for Adrenoleukodystrophy? What is the screening test
Young males with adrenal insufficiency. Very long chain fatty acids (elevated = diagnosis)
What is gold standard diagnostic test for differentiating between a pituitary or ectopic cause of ACTH dependent Cushing’s syndrome
Bilateral Inferior Petrosus Sinus Sampling. Central step up ratio of ACTH central to perisperhal of >2 is diagnostic of pituitary cause
Triad of symptoms associated with phaechromocytoma
Episodic
Tachycardia
Diaphoresis
Headache
Genetic Syndromes associated with Phaechromocytoma
In order
MEN 2
VHL
NF1