Extras Flashcards
What are auer rods associated with?
AML
What is the philadelphia chromosome associated with?
CML
9:22
What are smudge cells associated with?
CLL
Describe primary + secondary causes of hyperaldosteronism
Primary = idiopathic, Conn's (adenoma), familial Secondary = chronic low BP (due to HF or cirrhosis)
Describe mechanism of hyperaldosteronism
Increased RAS system
Hypokalaemia (constipation)
Hypernatraemia
High BP (flushing, headaches)
Describe the causes of hypoaldosteronism
Addisons, congenital adrenal hyperplasia, pituitary disease
Describe mechanism of hypoaldosteronism
Hyperkalaemia
Hyponatraemia (salt cravings, N/V, dizziness)
Causes a metabolic acidosis type 4
Describe mechanism of Addisons
Reduced aldosterone, cortisol + androgens
Low cortisol causes fatigue + hyperpigmentation
S+S of Addisons
Hyperpigmented skin
Back/ leg/ abdo pain
N/V/D
Low BP
Dx for Addisons
ACTH stimulation test (short synacthen test)
Causes of Addisons
Autoimmune, mets, TB
What is Waterhouse Friderichsen syndrome?
Sudden increase in BP causes adrenal vessels to rupture
leads to tissue ischaemia and adrenal gland failure
Describe mechanism of congenital adrenal hyperplasia
Autosomal recessive
Low cortisol so increased ACTH
Due to deficiency in 21-hydroxylase
Causes low steroids + high androgens
S+S of congenital adrenal hyperplasia
Females = enlarged clit
Males (classic) = no signs at birth, presents at 2-4 y/o
Males (salt losing) = vomiting + weight loss at 7-14 days due to deficiency in aldosterone
Dx for congenital adrenal hyperplasia
increased 17-hydroxyprogesterone
Tx of congenital adrenal hyperplasia
Steroids
Mechanism of acromegaly
Excess GH
Usually due to pituitary adenoma, pancreatic cancer or lung cancer (cancers that release GHRH or GH)
S+S of acromegaly
SOL = headache Pituitary adenoma causing bitemporal hemianopia Frontal bossing Macroglossia Large hands + feet HTN T2DM
Tx of acromegaly
Surgery
Pigvisomant
Orcgotide
Bromocriptine
Mechanism of phaechromocytoma
catecholamine (adrenaline) producing tumor of adrenal medulla
What conditions are associated with phaechromocytoma?
NF, von-Hippel Lindau, MEN 2a + 2b
S+S of phaechromocytoma
Headache, flushing, palpitations, HTN, panic
Dx of phaechromocytoma
Increased serum/ urine metanephrines
Tx of phaechromocytoma
Alpha blockers (phenoxybenzamine) then BB Surgery
Mechanism of refeeding syndrome
Hypophasphataemia
Phosphate directly linked to calcium levels
What is carvallo’s sign?
Murmur louder on inspiration = mitral or tricuspid regurg
When do you hear a mid systolic click?
mitral valve prolapse
What murmur do you hear with HOCM?
Crescendo decrescendo systolic murmur
Squatting = less intense, valsalva = more intense
What murmur do you hear with VSD?
Holosystolic murmur at left sternal border
What is Brugada syndrome?
Auto dominant
Faulty sodium ion channel
Causes ST elevation, RBBB, re-entrant loops + VT/VF
Mechanism of kallman syndrome
Decrease in sex hormones causing failure to start puberty
Defect in neurons from olfactory placode = loss of sense of smell, low GNRH so low LH + FSH, low testosterone, progesterone + estrogen
Mechanism of androgen insensitivity syndrome
XY doesn’t respond to androgens so looks female
X linked inheritance
Undescended testes but female characteristics
Mechanism of 5a reductase deficiency
Autosomal recessive, only XY
Internally male but externally female or male
At puberty, increase in testosterone causes penile enlargement
Dx of 5a reductase deficiency
Karyotype, normal testosterone, low dihydrotestosterone
Tx of 5a reductase deficiency
Sex hormones
Mechanism of SIADH
Increased ADH leads to increased water retention, diluting sodium
This reduces aldosterone which further reduces sodium
Increases urine osmolarity + decreased serum sodium
S+S of SIADH
Muscle cramps + tremor
Headaches
Nausea
Confusion + mood swings
Causes of SIADH
CNS = stroke, bleeds, trauma
Meds = lithium, anti-epileptics
Tumours - SCC, lung
Pneumonia
Tx of SIADH
Fluid restrict, high salt, protein, NaCl
Mechanism of diabetes insipidus
Kidneys absorb too little water, producing too much urine
Central DI = reduced ADH from hypothalamus/ pituitary
Nephrogenic DI = kidneys unresponsive to ADH (due to lithium, PKD)
Dx of diabetes insipidus
Increased serum osmolality Water deprivation test - urine osmolarity stays reducde Give desmopressin If urine osmolarity rises = CENTRAL DI If not, NEPHRO
Tx of diabetes insipidus
Desmopressin for central
Thiazide diuretics for nephrogenic
Hormones produced in anterior pituitary
GH ACTH Prolactin TSH LH FSH
Describe prolactinoma
Most common adenoma
Causes amenorrhea + galactorrhea
Low libido + gynaecomastia
Describe an adenoma of somatotropes
Produces GH
Causes gigantism in kids + acromegaly in adults
Can lead to heart failure
Describe ACTH secreting tumor
Increased ACTH so increased cortisol
Causes cushings disease - moon face, buffalo hump + truncal obesity
Tx of pituitary adenoma
Transphenoidal surgical resection
Dx of pituitary adenoma
Hormone levels + MRI
Hormones produced by posterior pituitary
ADH, oxytocin
Causes of hypopituitarism
Compression by adenoma or craniopharyngoma
Apoplexy (bleeding or infarction) - due to adenoma or Sheehans
Radiation or surgery
Dx of hypopituitarism
Baseline hormones in AM
ACTH + GH through the day
Stimulation with insulin
Causes of hyperparathyroidism
Primary = pituitary adenoma
Secondary due to kidney damage
Tertiary due to chronic secondary
Describe levels of Ca, PO4 + Vit D in primary, secondary + tertiary hypercalcaemia
1 = high Ca, high PO4 2 = low Ca, high PO4, low Vit D 3 = high Ca + CKD
Causes of hypoparathyroidism
Damage during surgery
MEN 1
Di George syndrome
S+S of hypocalcaemia/ hyperphosphatemia
Tetany Paraesthesia Calcification of basal ganglia or eyes Changes in cardiac output Chvostek's sign = tapping facial nerve Trousseua's sign = BP cuff causes carpopedal spasm
