Correlation of Hypertension

Question 1

Apparent Mineralocorticoid Excess (AME)

Answer 1

Presentation: low birth weight, failure to thrive, severe HTN in early childhood, estensive organ damage, renal failure

clinical: HTN, Hypokalemia, metabolic alkalosis, low plasma renin, low aldosterone in plasma and urine (differntiating factor of hyperaldosteronism–plasma)

Loss of function mutation of 11 B HSD2 (cant converte cortisol to make cortisone)

Question 2

Liddle syndrome

Answer 2

Pseudoaldosteronism
HTN- young onset
Hypokalemia
Metabolic alkalosis
Low renin activity
Similar to AME 

Gain of function of ENaC (SCNN), increased Na absorption–> HTN

Treatment: Inhibitors of ENaC (amiloride, Triamterene),

Question 3

Renal Tubular Salt-wasting disorders

Answer 3

Gitelman syndrome: distal tubal

Barttersyndrome

Question 4

Bartter syndrome

Answer 4

Ascending limb of loop of Henle site of loop diuretic action

Presentation: early onset (prenatal, infancy, childhood)

Symptoms: Severe hypotension, growth and developmental delays, polyuria & polydipsia

Biochem: hypokalemic metabolic alkalosis, elevated renin, aldosterone, serum magnesium normal/low, hypercalciuria

Functional defect: concentrating capcity severly impaired

Inheritance : loss of function

Question 5

Gitelman

Answer 5

Defect: Distal tubule
Presentation: adolescence/adulthood
symptoms: may be asymptomatic, hypotension, cramping of arms and legs