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TMS exam > 3 - gordons hypertension syndrome > Flashcards

3 - gordons hypertension syndrome Flashcards

1
Q

genetic characteristics of gordon’s syndrome

A

monogenic

fully penetrant

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2
Q

other name for gordons syndrome

A

pseudohyperaldosteronism type II

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3
Q

prevalence of high blood pressure

A

affects 1.13 billion people globally

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4
Q

systolic value refers to

A

blood pressure at time of contraction

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5
Q

definition of high blood pressure

A

sustained elevation of blood pressure

- greater than 140/90 mm/Hg

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6
Q

environmental risk factors for gordons syndrome

A

smoking
diet
stress

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7
Q

genetic risk factors for gordons syndrome

A 
mitochondrial genome (cell death)
nuclear genome (kidney/RAAS)
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8
Q

pathological features of gordons syndrome

A

hypertension
hyperalkalemia
normal renal function
sensitive to thiazide diuretics

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9
Q

what is hyperkalemia

A

increased blood/serum K+ levels

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10
Q

consequences of hyperkalemia

A

metabolic acidosis
hyperchloremia
muscle weakness –> periodic paralysis

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11
Q

why is hyperkalemia dangerous

A

Potassium is critical for the normal functioning of the muscles, heart, and nerves.
controls smooth muscle (e.g. in digestive tract) and skeletal muscle as well as the muscles of the heart–> controls rhythm
also important for transmission of electrical signals throughout the nervous system

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12
Q

how does metabolic acidosis cause hyperkalemia

A

increase in H+ in cells can displace K+ out of cells, causing a rise of serum potassium levels

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13
Q

how is renal function measured

A

using glomerular filtrate rate

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14
Q

differences between gordons syndrome and gitelmans syndrome

A

gordons:

  • gain of function in NCC
  • high BP, high serum K+
  • normal genomic sequence of NCC

gitelmans:

  • loss of function in NCC
  • low BP, low serum K+
  • point mutations and c-terminal tr
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15
Q

why is gordons syndrome known as pseudo

A

it mimics low levels of aldosterone

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16
Q

how do you diagnose gordons hypertension

A

molecular genetic testing

looking for mutations in WNK1, WNK4, CUL3, KLHL3

17
Q

why are there increased levels of blood K+

A

efflux of K+ is reduced

Na+ channels are responsible for the efflux

18
Q

why do levels of H+ increase

A

increased CO2

19
Q

what causes metabolic acidosis

A

Decreased H+ excretion
Na+ transfer into Collecting Duct increases, in exchange for potassium as well as an H+
decreased ammonia (NH4+) excretion leads to decreased acid excretion
Increased H+ reabsorption

20
Q

normal blood pressure

A

120/80mm/Hg

21
Q

which transporters do loop diuretics inhibit

A

phosphorylation of NKCC1 and NKCC2

22
Q

normal pH value of arterial blood

A

7.35-7.45

23
Q

normal pO2 and pCO2 for arterial blood

A 
pO2 = 11-13kPa
pCO2 = 4.5-6kPa
24
Q

effect of pCO2 on pH of the blood

A

increased pCO2 —> decreased pH

25
Q

origin of changes in pCO2 compared to HCO3

A

changes in pCO2 are normally respiratory in origin

changes in HCO3 are normally metabolic in origin

26
Q

effect of increased HCO3 and base excess

A

increased pH

27
Q

causes of acidosis

A

respiratory accumulation of CO2

metabolic accumulation of H+ or loss of HCO3 (bicarbonate)

28
Q

causes of alkalosis

A

respiratory cause –> hyperventilation –> loss of CO2

metabolic cause –> loss of H+, excess HCO3

29
Q

what do we mean by compensation in terms of acid base balance

A

A change in pH outside the normal range
causes the body to attempt to compensate
to return pH towards normal

30
Q

common causes of respiratory acidosis

A 
Chronic obstructive pulmonary disease,
severe asthma
pneumonia
muscle weakness
airway obstruction
31
Q

common causes of metabolic acidosis

A 
Severe shock (e.g. sepsis)
hypovolaemia
cardiogenic shock
diabetic ketoacidosis
renal failure
32
Q

common causes of respiratory alkalosis

A

Anything causing hyperventilation
e.g. hypoxia from pneumonia or asthma,
pain, fear, anxiety, most asthma,
salicylate poisoning

33
Q

common causes of metabolic alkalosis

A

prolonged and severe vomiting

34
Q

normal base excess or deficit from arterial blood

A

+ or - 2 mmol

35
Q

normal bicarbonate concentration of arterial blood

A

25 mmol/l HCO3-

36
Q

normal lactate concentration of arterial blood

A

> 2 mmol/l

37
Q

normal oxygen saturation of arterial blood

A

> 96%

TMS exam (22 decks)

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