Trigger 3: Gordon's syndrome clinical Flashcards

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1
Q

Gordon’s syndrome is s

A

rare familial form of hypertension

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2
Q

monogenic or poly geniic

A

monogenic

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3
Q

pentrance

A

fully penetrant e.g. if you have the mutation, you will have Gordon’s

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4
Q

alternative name

A

Pseudohypoaldosteronsim type II (PHA2)

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5
Q

clinical manifestations of PHA2

A
  • hypertension
  • hyperkalaemia
  • normal renal function (GFR)
  • very sensitive to thiazide diuretics
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6
Q

PHA2- Hypertension

A
  • Low renintype- salt dependent

- aldosterone levels low for decree of hyperkalaemia

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7
Q

PHA2- hyperkalaemia (high serum potassium, K+)

A
  • > 8mmol/l
  • metabolic acidosis/ hyperchloraemia
  • muscle weakeness
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8
Q

treatment goal

A

to reduce CVD risk factors and control BP by least intrusive means (<140/90)

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9
Q

in patient with diabetes or renal disease BP goal is

A

<130/80 mmHg

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10
Q

common complication of Gordon’s

A
  • diseases occurring in the heart, brain, kidney and eyes
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11
Q

how healthy your kidneys are can affect your

A

BP and vice versa

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12
Q

if you have high blood pressure

A

you are more likely to have kidney disease

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13
Q

if you have kidney disease

A

can cause high BP

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14
Q

the biggest health risk for people with kidney disease is

A

not actually kidney failure.. much more likely to develop heart disease or have a stroke

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15
Q

if you have kidney disease..

A

you have to keep your heart and blood vessels healthy- control your BP

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16
Q

why is Gordons called pseudohypoaldosteronsims (II) when you get a low aldosterone?

A
  • due to it appear (signs and symptoms)that aldosterone would be high, but levels are actually low
17
Q

why is PHAI a pseudohypoaldosteronism

A

due to sign and symptoms suggesting that aldosterone would be low, however it is very high

18
Q

what are the symptoms of of Type 1?

A

hypotension, hyponnatremia, hypokalemia

19
Q

what causes Type 1

A

Defects in the ENaC or MLR- both mutations lead to loss of Na+, with MLR also giving low K+, low Cl- and metabolic acidosis

20
Q

in Type 2 what will renin levels be like

A

low