102814 physio correlations, Mendelian HTN

Question 1

apparent mineralocorticoid excess

Answer 1

defective 11beta-HSD2 enzyme for converiting cortisol to cortisone

cortisol will bind to mineralcorticoid receptor that aldosterone binds to

Question 2

Liddle syndrome

Answer 2

mutation in renal epithelial sodium channel ENaC leading to constitutive expression

is a gain of fxn mutation

increased reabsorp. of Na leads to HTN

Question 3

Gitelman syndrome

Answer 3

mutation in gene for thiazide sensitive NaCl cotransporter

impaired Na/Cl transporter in early distal tubule

Question 4

Bartter syndrome

Answer 4

impaired reabsoprtion at thick ascneding loop

Question 5

what does salt wasting in Gilteman and Bartter syndrome cause?

Answer 5

hypotension, then
renin angiotensin aldosterone system, then
aldosterone stimulates ENaC to compensate

Question 6

findings of syndrome of mineralcorticoid excess are similar to

Answer 6

primary aldosteronism (too much aldosterone released)

Question 7

Bartter syndrome-the tubular defect mimics what?

Answer 7

chronic loop diuretic ingestion

Question 8

Bartter and Gitelman syndrome–you get what as a result

Answer 8

depletion of volume, activation of renin angiotensin aldos sys, secondary hyperaldosteronism (due to impaired reabsorption), potassium secretion and hydrogen ion secretion

Question 9

Gitelman syndrome-tubular defect mimics what?

Answer 9

chronic thiazide diuretic ingestion