Syndrome's Flashcards
Marfan's Turner's Cushing's Conn's
define Marfan’s syndrome
inherited disorder that affects the connective tissue
complications of Marfans
aneurysm
dissection
valve malformations
presentation of Marfan’s syndrome
- tall, long arms and fingers
- heart murmur
- pectus excavatum or pectus carinatum
diagnosis of marfans
- echocardiogram
- genetic testing
- eye pressure
management of marfans
- aortic repair
- breastbone corrections
- eye surgery
define Conn’s syndrome
excessive secretion of aldosterone (often adrenal gland tumour)
presentation of Conn’s syndrome
- high BP
- low potassium
- high renin and aldosterone
diagnosis of Conn’s
- oral salt loading test (high salt diet for 3 days then aldosterone and sodium levels are measured)
- CT scan
- adrenal vein sampling (measures aldosterone in both the adrenal veins)
management of Conn’s
- removal of tumour (if present)
- aldosterone blocking drugs e.g. mineralocorticoid receptor antagonists = spironolactone
define Cushing’s syndrome
pituitary tumour leading to excessive ACTH stimulating the adrenal cortex leading to high levels of cortisol
presentation of Cushing’s syndrome
- increased fast
- red, puffy, rounded face
- bruise easily
diagnosis of Cushing’s syndrome
- urine, blood and saliva for cortisol levels
management of Cushing’s syndrome
- stop steroids
- surgery to remove tumour, chemotherapy, radiotherapy
define Turner’s syndrome
45X where one X is missing in females
presentation of Turner’s syndrome
- low set ears
- wide neck
- small
diagnosis of Turner’s syndrome
amniocentesis
management of Turner’s syndrome
growth hormones
oestrogen therapy
define phaeochromocytoma
neuroendocrine tumour of the medulla of the adrenal gland secreting high levels of catecholamines
presentation of phaeochromocytoma
high blood pressure
headache
tachycardia
diagnosis of phaeochromocytoma
urine and bloods
CT
MRI
PET
management of phaeochromocytoma
alpha blockers e.g. prazosin and doxazosin
beta blockers
high salt diet
surgery to remove tumour with chemo and radiotherapy
