3 - gordons hypertension syndrome

Question 1

genetic characteristics of gordon’s syndrome

Answer 1

monogenic

fully penetrant

Question 2

other name for gordons syndrome

Answer 2

pseudohyperaldosteronism type II

Question 3

prevalence of high blood pressure

Answer 3

affects 1.13 billion people globally

Question 4

systolic value refers to

Answer 4

blood pressure at time of contraction

Question 5

definition of high blood pressure

Answer 5

sustained elevation of blood pressure

- greater than 140/90 mm/Hg

Question 6

environmental risk factors for gordons syndrome

Answer 6

smoking
diet
stress

Question 7

genetic risk factors for gordons syndrome

Answer 7

mitochondrial genome (cell death)
nuclear genome (kidney/RAAS)

Question 8

pathological features of gordons syndrome

Answer 8

hypertension
hyperalkalemia
normal renal function
sensitive to thiazide diuretics

Question 9

what is hyperkalemia

Answer 9

increased blood/serum K+ levels

Question 10

consequences of hyperkalemia

Answer 10

metabolic acidosis
hyperchloremia
muscle weakness –> periodic paralysis

Question 11

why is hyperkalemia dangerous

Answer 11

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

Question 12

how does metabolic acidosis cause hyperkalemia

Answer 12

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

Question 13

how is renal function measured

Answer 13

using glomerular filtrate rate

Question 14

differences between gordons syndrome and gitelmans syndrome

Answer 14

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

Question 15

why is gordons syndrome known as pseudo

Answer 15

it mimics low levels of aldosterone

Question 16

how do you diagnose gordons hypertension

Answer 16

molecular genetic testing

looking for mutations in WNK1, WNK4, CUL3, KLHL3

Question 17

why are there increased levels of blood K+

Answer 17

efflux of K+ is reduced

Na+ channels are responsible for the efflux

Question 18

why do levels of H+ increase

Answer 18

increased CO2

Question 19

what causes metabolic acidosis

Answer 19

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

Question 20

normal blood pressure

Answer 20

120/80mm/Hg

Question 21

which transporters do loop diuretics inhibit

Answer 21

phosphorylation of NKCC1 and NKCC2

Question 22

normal pH value of arterial blood

Answer 22

7.35-7.45

Question 23

normal pO2 and pCO2 for arterial blood

Answer 23

pO2 = 11-13kPa
pCO2 = 4.5-6kPa

Question 24

effect of pCO2 on pH of the blood

Answer 24

increased pCO2 —> decreased pH

Question 25

origin of changes in pCO2 compared to HCO3

Answer 25

changes in pCO2 are normally respiratory in origin | changes in HCO3 are normally metabolic in origin

Question 26

effect of increased HCO3 and base excess

Answer 26

increased pH

Question 27

causes of acidosis

Answer 27

respiratory accumulation of CO2 | metabolic accumulation of H+ or loss of HCO3 (bicarbonate)

Question 28

causes of alkalosis

Answer 28

respiratory cause --> hyperventilation --> loss of CO2 | metabolic cause --> loss of H+, excess HCO3

Question 29

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

Answer 29

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

Question 30

common causes of respiratory acidosis

Answer 30

``` Chronic obstructive pulmonary disease, severe asthma pneumonia muscle weakness airway obstruction ```

Question 31

common causes of metabolic acidosis

Answer 31

``` Severe shock (e.g. sepsis) hypovolaemia cardiogenic shock diabetic ketoacidosis renal failure ```

Question 32

common causes of respiratory alkalosis

Answer 32

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

Question 33

common causes of metabolic alkalosis

Answer 33

prolonged and severe vomiting

Question 34

normal base excess or deficit from arterial blood

Answer 34

+ or - 2 mmol

Question 35

normal bicarbonate concentration of arterial blood

Answer 35

25 mmol/l HCO3-

Question 36

normal lactate concentration of arterial blood

Answer 36

>2 mmol/l

Question 37

normal oxygen saturation of arterial blood

Answer 37

>96%