Trigger 3: Gordon's syndrome clinical Flashcards
Gordon’s syndrome is s
rare familial form of hypertension
monogenic or poly geniic
monogenic
pentrance
fully penetrant e.g. if you have the mutation, you will have Gordon’s
alternative name
Pseudohypoaldosteronsim type II (PHA2)
clinical manifestations of PHA2
- hypertension
- hyperkalaemia
- normal renal function (GFR)
- very sensitive to thiazide diuretics
PHA2- Hypertension
- Low renintype- salt dependent
- aldosterone levels low for decree of hyperkalaemia
PHA2- hyperkalaemia (high serum potassium, K+)
- > 8mmol/l
- metabolic acidosis/ hyperchloraemia
- muscle weakeness
treatment goal
to reduce CVD risk factors and control BP by least intrusive means (<140/90)
in patient with diabetes or renal disease BP goal is
<130/80 mmHg
common complication of Gordon’s
- diseases occurring in the heart, brain, kidney and eyes
how healthy your kidneys are can affect your
BP and vice versa
if you have high blood pressure
you are more likely to have kidney disease
if you have kidney disease
can cause high BP
the biggest health risk for people with kidney disease is
not actually kidney failure.. much more likely to develop heart disease or have a stroke
if you have kidney disease..
you have to keep your heart and blood vessels healthy- control your BP
why is Gordons called pseudohypoaldosteronsims (II) when you get a low aldosterone?
- due to it appear (signs and symptoms)that aldosterone would be high, but levels are actually low
why is PHAI a pseudohypoaldosteronism
due to sign and symptoms suggesting that aldosterone would be low, however it is very high
what are the symptoms of of Type 1?
hypotension, hyponnatremia, hypokalemia
what causes Type 1
Defects in the ENaC or MLR- both mutations lead to loss of Na+, with MLR also giving low K+, low Cl- and metabolic acidosis
in Type 2 what will renin levels be like
low
