Mendellian forms of HTN

Question 1

What isthe clinical presentation of syndrome of apparent mineralcorticoid excess?

Answer 1

low birth weight
fail to thrive
severe HTN in early childhood
extesnive organ damage
renal failure

w/ HTN
hypokalemia
metabolic alkalosis
low plasma renin activity
low plasma aldosterone levels

findings similar to primary aldosteronism
-differntial elevated plasma aldosterone levels

Question 2

HOw do you diagnose aldosterone mineralcorticoid excess?

Answer 2

measure inrine cortisol to cortisone ration

11Beta-HSD2 defect

free cortisone levels are very low or undetectable

Question 3

What is liddle syndrome?

Answer 3

pseudoaldosteronism
Clinical picture:
HTN-young onset
hypokalemia
metabolic alkalosis
low plasma renin activity
low plasma aldosterone and urinary aldosterone

Question 4

What is teh pathogenesis behind liddle syndrome?

Answer 4

mutation in reanl epithalial sodium channel leading to constituitive expression

Question 5

How do you treat apparent mineralcorticoid excess?

Answer 5

therapy to reduce exxogenous cortisol production (decrease sodium channel activity)

• amiloride
• triamterene

block mineral corticoid receptor

• spironolactone
• elperenone

potassium repletion

dexamethasone for ACTH suppression
prognosis is usually poor because of advanced progression of disease at diagnosis

Question 6

How do you treat liddle syndrome?

Answer 6

agentst aht decrease sodium channel activity

• traimeterene
• amiloride

with treatment prognosis is good

Question 7

What is the presentation of bartter syndrome?

Answer 7

early childhood
growth and metnal retardation
polyuria and polydypsia
hypercalciuria

clinical picture:
hypokalemia
hyperreninemia
hyperaldosteronism
metabolic alkalosis

Question 8

What is the presentation of gitelman syndrome?

Answer 8

adolescence/adulthood
cramping of arms and legs
fatigue
hypomagnesium
poluria
and nocturia

clinical picture:
hypokalemia
hyperreninemia
hyperaldosteronism
metablic alklosis